Neurofibromin
Das NF1-Gen kodiert ein Portein welches an der Signaltransduktion beteiligt ist. Es ist ein negativer Regulator des intrazellulären ras-Weges. Mutationen führen zu autosomal dominanten Erkrankungen wie Neurofibromatose 1, Watson-Syndrom und juveniler myelomonozytärer Leukämie. Letztere wird auch bei somatischen Mutationen gesehen.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Mukhopadhyay D et al. (2002) C-->U editing of neurofibromatosis 1 mRNA occurs in tumors that express both the type II transcript and apobec-1, the catalytic subunit of the apolipoprotein B mRNA-editing enzyme.
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2. |
Wallace MR et al. (1991) A de novo Alu insertion results in neurofibromatosis type 1.
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3. |
None (2008) Comprehensive genomic characterization defines human glioblastoma genes and core pathways.
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4. |
Allanson JE et al. (1985) Noonan phenotype associated with neurofibromatosis.
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5. |
Colley A et al. (1996) Neurofibromatosis/Noonan phenotype: a variable feature of type 1 neurofibromatosis.
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6. |
Baralle D et al. (2003) Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS).
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7. |
Bertola DR et al. (2005) Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient.
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8. |
De Luca A et al. (2005) NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.
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9. |
Stevenson DA et al. (2006) Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype.
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10. |
Thiel C et al. (2009) Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome.
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11. |
Nyström AM et al. (2009) Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1.
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12. |
Gutmann DH et al. (1997) The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2.
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13. |
Heim RA et al. (1994) Screening for truncated NF1 proteins.
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14. |
Upadhyaya M et al. (1997) Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene.
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15. |
Silva AJ et al. (1997) A mouse model for the learning and memory deficits associated with neurofibromatosis type I.
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16. |
Side L et al. (1997) Homozygous inactivation of the NF1 gene in bone marrow cells from children with neurofibromatosis type 1 and malignant myeloid disorders.
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17. |
Skuse GR et al. (1997) RNA processing and clinical variability in neurofibromatosis type I (NF1).
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18. |
Klose A et al. (1998) Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1.
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19. |
Kluwe L et al. (1999) Allelic loss of the NF1 gene in NF1-associated plexiform neurofibromas.
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20. |
Eisenbarth I et al. (2000) Toward a survey of somatic mutation of the NF1 gene in benign neurofibromas of patients with neurofibromatosis type 1.
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21. |
Gutzmer R et al. (2000) Allelic loss at the neurofibromatosis type 1 (NF1) gene locus is frequent in desmoplastic neurotropic melanoma.
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22. |
Gervasini C et al. (2002) Tandem duplication of the NF1 gene detected by high-resolution FISH in the 17q11.2 region.
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23. |
Upadhyaya M et al. (2003) Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1.
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24. |
Kluwe L et al. (2003) NF1 mutations and clinical spectrum in patients with spinal neurofibromas.
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25. |
Wiest V et al. (2003) Somatic NF1 mutation spectra in a family with neurofibromatosis type 1: toward a theory of genetic modifiers.
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26. |
Ferner RE et al. (2004) Neurofibromatous neuropathy in neurofibromatosis 1 (NF1).
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27. |
Ragge NK et al. (2005) Heterozygous mutations of OTX2 cause severe ocular malformations.
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28. |
Kolanczyk M et al. (2007) Multiple roles for neurofibromin in skeletal development and growth.
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29. |
Henderson RA et al. (2007) Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia.
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30. |
Pulst SM et al. (1991) Familial spinal neurofibromatosis: clinical and DNA linkage analysis.
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31. |
Poyhonen M et al. (1997) Hereditary spinal neurofibromatosis: a rare form of NF1?
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32. |
Ars E et al. (1998) A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene.
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33. |
Kaufmann D et al. (2001) Spinal neurofibromatosis without café-au-lait macules in two families with null mutations of the NF1 gene.
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34. |
Messiaen L et al. (2003) Independent NF1 mutations in two large families with spinal neurofibromatosis.
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35. |
Upadhyaya M et al. (1992) Analysis of mutations at the neurofibromatosis 1 (NF1) locus.
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36. |
Viskochil D et al. (1990) Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus.
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37. |
Upadhyaya M et al. (1990) A 90 kb DNA deletion associated with neurofibromatosis type 1.
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38. |
Wallace MR et al. (1990) Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients.
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39. |
Huson SM et al. (1989) A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity.
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40. |
Barker D et al. (1987) Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17.
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41. |
Allanson JE et al. (1991) Watson syndrome: is it a subtype of type 1 neurofibromatosis?
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42. |
Tassabehji M et al. (1993) Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome.
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43. |
Weiming X et al. (1992) Molecular analysis of neurofibromatosis type 1 mutations.
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44. |
Stark M et al. (1992) Analysis of segregation and expression of an identified mutation at the neurofibromatosis type 1 locus.
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45. |
Legius E et al. (1992) NF1-related locus on chromosome 15.
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46. |
Daston MM et al. (1992) The protein product of the neurofibromatosis type 1 gene is expressed at highest abundance in neurons, Schwann cells, and oligodendrocytes.
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47. |
DeClue JE et al. (1992) Abnormal regulation of mammalian p21ras contributes to malignant tumor growth in von Recklinghausen (type 1) neurofibromatosis.
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48. |
Li Y et al. (1992) Somatic mutations in the neurofibromatosis 1 gene in human tumors.
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49. |
Basu TN et al. (1992) Aberrant regulation of ras proteins in malignant tumour cells from type 1 neurofibromatosis patients.
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50. |
Xu G et al. (1992) Characterization of human adenylate kinase 3 (AK3) cDNA and mapping of the AK3 pseudogene to an intron of the NF1 gene.
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51. |
Estivill X et al. (1991) Recurrence of a nonsense mutation in the NF1 gene causing classical neurofibromatosis type 1.
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52. |
Marchuk DA et al. (1991) cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product.
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53. |
Stark M et al. (1991) A small deletion and an adjacent base exchange in a potential stem-loop region of the neurofibromatosis 1 gene.
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54. |
Gutmann DH et al. (1991) Identification of the neurofibromatosis type 1 gene product.
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55. |
DeClue JE et al. (1991) Identification and characterization of the neurofibromatosis type 1 protein product.
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56. |
Xu GF et al. (1990) The neurofibromatosis type 1 gene encodes a protein related to GAP.
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57. |
Buchberg AM et al. (1990) Sequence homology shared by neurofibromatosis type-1 gene and IRA-1 and IRA-2 negative regulators of the RAS cyclic AMP pathway.
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58. |
Hull J et al. (1994) The stop mutation R553X in the CFTR gene results in exon skipping.
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59. |
Purandare SM et al. (1995) Characterisation of a novel splice donor mutation affecting position +1 in intron 18 of the NF-1 gene.
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60. |
Lázaro C et al. (1995) Two further cases of mutation R1947X in the NF1 gene: screening for a relatively common recurrent mutation.
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61. |
Vogel KS et al. (1995) Loss of neurofibromin results in neurotrophin-independent survival of embryonic sensory and sympathetic neurons.
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62. |
Li Y et al. (1995) Genomic organization of the neurofibromatosis 1 gene (NF1).
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63. |
Horiuchi T et al. (1994) Nonsense mutations at Arg-1947 in two cases of familial neurofibromatosis type 1 in Japanese.
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64. |
Valero MC et al. (1994) Characterization of four mutations in the neurofibromatosis type 1 gene by denaturing gradient gel electrophoresis (DGGE).
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65. |
Nakafuku M et al. (1993) Suppression of oncogenic Ras by mutant neurofibromatosis type 1 genes with single amino acid substitutions.
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66. |
Ainsworth PJ et al. (1993) Identification and characterization of sporadic and inherited mutations in exon 31 of the neurofibromatosis (NF1) gene.
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67. |
Dietz HC et al. (1993) The skipping of constitutive exons in vivo induced by nonsense mutations.
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68. |
Johnson MR et al. (1993) Inactivation of the NF1 gene in human melanoma and neuroblastoma cell lines without impaired regulation of GTP.Ras.
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69. |
Skuse GR et al. (1996) The neurofibromatosis type I messenger RNA undergoes base-modification RNA editing.
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70. |
Robinson PN et al. (1996) Recurrent 2-bp deletion in exon 10c of the NF1 gene in two cases of von Recklinghausen neurofibromatosis.
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71. |
Wu R et al. (1996) Neurofibromatosis type I gene mutation in a patient with features of LEOPARD syndrome.
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72. |
Cappione AJ et al. (1997) A potential role for NF1 mRNA editing in the pathogenesis of NF1 tumors.
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73. |
The I et al. (1997) Rescue of a Drosophila NF1 mutant phenotype by protein kinase A.
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74. |
Guo HF et al. (1997) Requirement of Drosophila NF1 for activation of adenylyl cyclase by PACAP38-like neuropeptides.
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75. |
Maynard J et al. (1997) Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene.
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76. |
Abernathy CR et al. (1997) NF1 mutation analysis using a combined heteroduplex/SSCP approach.
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77. |
Hoffmeyer S et al. (1998) Nearby stop codons in exons of the neurofibromatosis type 1 gene are disparate splice effectors.
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78. |
Side LE et al. (1998) Mutations of the NF1 gene in children with juvenile myelomonocytic leukemia without clinical evidence of neurofibromatosis, type 1.
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79. |
Osborn MJ et al. (1999) Evaluation of the protein truncation test and mutation detection in the NF1 gene: mutational analysis of 15 known and 40 unknown mutations.
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80. |
Faravelli F et al. (1999) Unusual clustering of brain tumours in a family with NF1 and variable expression of cutaneous features.
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81. |
Ars E et al. (2000) Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.
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82. |
Fahsold R et al. (2000) Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.
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83. |
Park KC et al. (2000) A nonsense mutation at Arg-1947 in the NF1 gene in a case of neurofibromatosis type 1 in a Korean patient.
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84. |
Messiaen LM et al. (2000) Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.
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85. |
Liu HX et al. (2001) A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes.
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86. |
None (2001) The neurofibromatoses: when less is more.
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87. |
Messiaen LM et al. () Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing.
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88. |
Luijten M et al. (2001) Duplication and transposition of the NF1 pseudogene regions on chromosomes 2, 14, and 22.
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89. |
Weeber EJ et al. (2002) Molecular neurobiology of human cognition.
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90. |
Cartegni L et al. (2002) Listening to silence and understanding nonsense: exonic mutations that affect splicing.
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91. |
Fairbrother WG et al. (2002) Predictive identification of exonic splicing enhancers in human genes.
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92. |
Kehrer-Sawatzki H et al. (2002) Molecular characterisation of t(17;22)(q11.2;q11.2) is not consistent with NF1 gene duplication.
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93. |
Maris JM et al. (2002) Evidence for a hereditary neuroblastoma predisposition locus at chromosome 16p12-13.
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94. |
Ruiz-Lozano P et al. (2003) Cre-constructing the heart.
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95. |
Kehrer-Sawatzki H et al. (2003) Interphase FISH, the structure of reciprocal translocation chromosomes and physical mapping studies rule out the duplication of the NF1 gene at 17q11.2. A reply.
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96. |
Colapietro P et al. (2003) NF1 exon 7 skipping and sequence alterations in exonic splice enhancers (ESEs) in a neurofibromatosis 1 patient.
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97. |
Castle B et al. (2003) Evaluation of genotype-phenotype correlations in neurofibromatosis type 1.
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98. |
Mosse YP et al. (2004) Germline PHOX2B mutation in hereditary neuroblastoma.
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99. |
Zatkova A et al. (2004) Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1.
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100. |
Ling JQ et al. (2006) CTCF mediates interchromosomal colocalization between Igf2/H19 and Wsb1/Nf1.
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101. |
Trovó-Marqui AB et al. (2006) Neurofibromin: a general outlook.
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102. |
Upadhyaya M et al. (2007) An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation.
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103. |
Sabbagh A et al. (2009) Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1.
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104. |
Phan VT et al. (2010) The RasGAP proteins Ira2 and neurofibromin are negatively regulated by Gpb1 in yeast and ETEA in humans.
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105. |
Lubeck BA et al. (2015) Cutting Edge: Codeletion of the Ras GTPase-Activating Proteins (RasGAPs) Neurofibromin 1 and p120 RasGAP in T Cells Results in the Development of T Cell Acute Lymphoblastic Leukemia.
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106. |
NCBI article
NCBI 4763
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107. |
OMIM.ORG article
Omim 613113
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108. |
Orphanet article
Orphanet ID 123772
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109. |
Wikipedia Artikel
Wikipedia DE (Neurofibromin)
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Update: 14. August 2020