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Tuberous sclerosis complex

Tuberous sclerosis complex is an autosomal dominant disorder caused by mutations of the TSC1/2 genes. The disease is characterized by multisystemic hamartomas of skin, brain, kidney, lung and heart.

Systematic

Hereditary brain tumors
Susceptibility to glioma
Tuberous sclerosis complex
Tuberous sclerosis 1
TSC1
Tuberous sclerosis 2
IFNG
TSC2

References:

1.

Dabora SL et al. (2002) Association between a high-expressing interferon-gamma allele and a lower frequency of kidney angiomyolipomas in TSC2 patients.

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2.

Webb DW et al. (1991) Non-penetrance in tuberous sclerosis.

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3.

None (1971) Mutation and cancer: statistical study of retinoblastoma.

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4.

Kumar A et al. (1995) A de novo frame-shift mutation in the tuberin gene.

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5.

Verhoef S et al. (1995) Somatic mosaicism and clinical variation in tuberous sclerosis complex.

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6.

Vrtel R et al. (1996) Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex.

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7.

Roach ES et al. (1998) Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria.

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8.

Dabora SL et al. (2001) Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.

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9.

Khare L et al. (2001) A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families with tuberous sclerosis complex.

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10.

Martin N et al. (2003) Discordant clinical manifestations in monozygotic twins with the identical mutation in the TSC2 gene.

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11.

Crino PB et al. (2006) The tuberous sclerosis complex.

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12.

Jansen AC et al. (2006) Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation.

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13.

Au KS et al. (2007) Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.

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14.

Liang N et al. (2014) Regulation of YAP by mTOR and autophagy reveals a therapeutic target of tuberous sclerosis complex.

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15.

Povey S et al. (1994) Two loci for tuberous sclerosis: one on 9q34 and one on 16p13.

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16.

van Slegtenhorst M et al. (1997) Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.

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17.

Ali JB et al. (1998) Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis.

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18.

Kwiatkowska J et al. (1998) Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance.

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19.

Uhlmann EJ et al. (2002) Heterozygosity for the tuberous sclerosis complex (TSC) gene products results in increased astrocyte numbers and decreased p27-Kip1 expression in TSC2+/- cells.

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20.

Uhlmann EJ et al. (2002) Astrocyte-specific TSC1 conditional knockout mice exhibit abnormal neuronal organization and seizures.

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21.

Sancak O et al. (2005) Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex.

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22.

Zeng LH et al. (2008) Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex.

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23.

Wilson J et al. (1978) Genetics of tuberose sclerosis.

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24.

Sybert VP et al. (1979) Inheritance of tuberous sclerosis.

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25.

Rushton AR et al. (1979) Tuberous sclerosis: possible modification of phenotypic expression by an unlinked dominant gene.

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26.

McWilliam RC et al. (1978) Depigmented hair. The earliest sign of tuberous sclerosis.

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27.

Martin GI et al. (1976) Computer-assisted cranial tomography in early diagnosis of tuberous sclerosis.

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28.

O'Callaghan TJ et al. (1975) Tuberous sclerosis with striking renal involvement in a family.

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29.

Northrup H et al. (1992) Evidence for genetic heterogeneity in tuberous sclerosis: one locus on chromosome 9 and at least one locus elsewhere.

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30.

Sampson JR et al. (1992) Linkage investigation of three putative tuberous sclerosis determining loci on chromosomes 9q, 11q, and 12q. The Tuberous Sclerosis Collaborative Group.

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31.

Janssen LA et al. (1992) Computer simulation of linkage and heterogeneity in tuberous sclerosis: a critical evaluation of the collaborative family data.

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32.

Sampson JR et al. (1992) Pitted enamel hypoplasia in tuberous sclerosis.

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33.

Webb DW et al. (1992) Echocardiography and genetic counselling in tuberous sclerosis.

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34.

Fahsold R et al. (1991) Tuberous sclerosis in a child with de novo translocation t(3;12) (p26.3;q23.3).

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35.

Haines JL et al. (1991) Localization of one gene for tuberous sclerosis within 9q32-9q34, and further evidence for heterogeneity.

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36.

Janssen LA et al. (1990) Genetic heterogeneity in tuberous sclerosis.

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37.

Rott HD et al. (1991) Tuberous sclerosis in two sibs of normal parents.

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38.

Fryer AE et al. (1990) The value of investigation for genetic counselling in tuberous sclerosis.

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39.

Harding CO et al. (1990) Incidence of tuberous sclerosis in patients with cardiac rhabdomyoma.

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40.

Smith M et al. (1990) Mapping of a gene determining tuberous sclerosis to human chromosome 11q14-11q23.

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41.

Winship IM et al. (1990) Genetic heterogeneity in tuberous sclerosis: phenotypic correlations.

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42.

van Baal JG et al. (1989) Tuberous sclerosis and the relation with renal angiomyolipoma. A genetic study on the clinical aspects.

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43.

Sampson JR et al. (1989) Evidence for genetic heterogeneity in tuberous sclerosis.

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44.

Grether P et al. (1987) Wilms' tumor in an infant with tuberous sclerosis.

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45.

Fryer AE et al. (1987) Evidence that the gene for tuberous sclerosis is on chromosome 9.

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46.

Hall JG et al. (1987) Genetics of tuberous sclerosis.

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47.

Northrup H et al. (1987) Linkage of tuberous sclerosis to ABO blood group.

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48.

Connor JM et al. (1987) Linkage of the tuberous sclerosis locus to a DNA polymorphism detected by v-abl.

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49.

None (1987) Tuberous sclerosis and ABO.

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50.

Povey S et al. (1988) Genetic recombination between tuberous sclerosis and oncogene v-abl.

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51.

Sampson JR et al. (1989) Genetic aspects of tuberous sclerosis in the west of Scotland.

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52.

Smith HC et al. (1989) Cardiac rhabdomyomata in tuberous sclerosis: their course and diagnostic value.

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53.

Scappaticci S et al. (1988) Chromosome abnormalities in tuberous sclerosis.

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54.

de León GA et al. (1988) Olfactory hamartomas in tuberous sclerosis.

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55.

Connor JM et al. (1987) Tuberous sclerosis: analysis of linkage to red cell and plasma protein markers.

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56.

Journel H et al. () Prenatal diagnosis of familial tuberous sclerosis following detection of cardiac rhabdomyoma by ultrasound.

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57.

Fryer AE et al. (1987) Forehead plaque: a presenting skin sign in tuberous sclerosis.

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58.

Lygidakis NA et al. (1987) Pitted enamel hypoplasia in tuberous sclerosis patients and first-degree relatives.

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59.

Baraitser M et al. (1985) Reduced penetrance in tuberous sclerosis.

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60.

Kandt RS et al. (1985) Tuberous sclerosis with cardiogenic cerebral embolism: magnetic resonance imaging.

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61.

Sugita K et al. (1985) Tuberous sclerosis: report of two cases studied by computer-assisted cranial tomography within one week after birth.

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62.

Fitzpatrick TB et al. (1968) White leaf-shaped macules. Earliest visible sign of tuberous sclerosis.

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63.

Dwyer JM et al. (1971) Pulmonary tuberous sclerosis. Report of three patients and a review of the literature.

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64.

Larbre F et al. (1971) [Clinical and anatomical case of an aortic aneurysm in the course of Bourneville's tuberous sclerosis].

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65.

Lagos JC et al. (1967) Tuberous sclerosis: reappraisal of a clinical entity.

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66.

Bundey S et al. (1969) Tuberous sclerosis: a genetic study.

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67.

Bundey S et al. (1970) Tuberose sclerosis without adenoma sebaceum.

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68.

Freycon F et al. (1971) [Abdominal aorta aneurysm during Bourneville's tuberous sclerosis].

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69.

Nevin NC et al. (1968) Diagnostic and genetical aspects of tuberous sclerosis.

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70.

Anderson D et al. (1969) Tuberous sclerosis and chronic renal failure. Potential confusion with polycystic kidney disease.

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71.

None (1969) Tuberous sclerosis. Extensive roentgen findings without the usual clinical picture: a case report.

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72.

Milledge RD et al. (1966) Pulmonary manifestations of tuberous sclerosis.

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73.

Bender BL et al. (1981) Splenic involvement in tuberous sclerosis. Report of three cases.

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74.

Hunt A et al. (1984) Tuberous sclerosis: a new estimate of prevalence within the Oxford region.

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75.

Cassidy SB et al. (1983) Family studies in tuberous sclerosis. evaluation of apparently unaffected parents.

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76.

Rattan PK et al. (1983) Tuberous sclerosis in pregnancy.

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77.

Grasso S et al. (1982) Unusual liver lesion in tuberous sclerosis.

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78.

Gomez MR et al. (1982) Tuberous sclerosis, early onset of seizures, and mental subnormality: study of discordant homozygous twins.

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79.

Stapleton FB et al. (1980) The cystic renal lesion in tuberous sclerosis.

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80.

Schwartz PL et al. (1980) Tuberous sclerosis associated with a retinal angioma.

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81.

Webb D et al. (1994) Pitted enamel hypoplasia in tuberous sclerosis.

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82.

Pascual-Castroviejo I et al. (1995) Tuberous sclerosis associated with histologically confirmed ocular and cerebral tumors.

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83.

Sampson JR et al. (1995) Multifocal renal cell carcinoma in sibs from a chromosome 9 linked (TSC1) tuberous sclerosis family.

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84.

McGrae JD et al. (1996) Unilateral facial angiofibromas--a segmental form of tuberous sclerosis.

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85.

Webb DW et al. (1996) The cutaneous features of tuberous sclerosis: a population study.

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86.

Cook JA et al. (1996) A cross sectional study of renal involvement in tuberous sclerosis.

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87.

Au KS et al. (1996) Report of a critical recombination further narrowing the TSC1 region.

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88.

Bosi G et al. (1996) The natural history of cardiac rhabdomyoma with and without tuberous sclerosis.

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89.

Ruggieri M et al. (1997) Tuberous sclerosis complex: neonatal deaths in three of four children of consanguineous, non-expressing parents.

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90.

Flanagan N et al. (1997) Developmental enamel defects in tuberous sclerosis: a clinical genetic marker?

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91.

Van Tassel P et al. (1997) Cystlike white matter lesions in tuberous sclerosis.

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92.

O'Callaghan FJ et al. (1998) Tuberous sclerosis complex and Wolff-Parkinson-White syndrome.

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93.

Griffiths PD et al. (1998) White matter abnormalities in tuberous sclerosis complex.

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94.

Verhoef S et al. (1999) High rate of mosaicism in tuberous sclerosis complex.

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95.

O'Callaghan FJ et al. (2000) Renal angiomyolipomata and learning difficulty in tuberous sclerosis complex.

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96.

Rott HD et al. (2002) Cyst-like cerebral lesions in tuberous sclerosis.

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97.

SCHULL WJ et al. (1953) Neurocutaneous syndromes in the M kindred; a case of simultaneous occurrence of tuberous sclerosis an neurofibromatosis.

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98.

DE LA CRUZ FF et al. (1962) Tuberous sclerosis: a review and report of eight cases.

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99.

MARSHALL D et al. (1959) Tuberous sclerosis: a report of 16 cases in two family trees revealing genetic dominance.

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100.

None (1961) [Tuberous sclerosis (report of Yugoslav cases)].

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101.

NICKEL WR et al. (1962) Tuberous sclerosis. Special reference to the microscopic alterations in the cutaneous hamartomas.

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102.

SCHEIG RL et al. (1961) Tuberous sclerosis in the adult. An unusual case without mental deficiency or epilepsy.

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103.

Lewis JC et al. (2004) Genotype and psychological phenotype in tuberous sclerosis.

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104.

Humphrey A et al. (2004) Monozygotic twins with tuberous sclerosis discordant for the severity of developmental deficits.

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105.

None (2005) TSC1, TSC2, TSC3? Or mosaicism?

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106.

Shields JA et al. (2005) Aggressive retinal astrocytomas in 4 patients with tuberous sclerosis complex.

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107.

Jansen FE et al. (2008) Overlapping neurologic and cognitive phenotypes in patients with TSC1 or TSC2 mutations.

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108.

Curatolo P et al. (2008) Tuberous sclerosis.

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109.

de Vries PJ et al. (2009) Neuropsychological attention deficits in tuberous sclerosis complex (TSC).

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110.

Chu-Shore CJ et al. (2009) Cyst-like tubers are associated with TSC2 and epilepsy in tuberous sclerosis complex.

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111.

Muzykewicz DA et al. (2009) TSC1 and TSC2 mutations in patients with lymphangioleiomyomatosis and tuberous sclerosis complex.

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112.

McMaster ML et al. (2011) Clinical features distinguish childhood chordoma associated with tuberous sclerosis complex (TSC) from chordoma in the general paediatric population.

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113.

Brackley KJ et al. (1999) Prenatal diagnosis of tuberous sclerosis with intracerebral signs at 14 weeks' gestation.

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114.

Roberts PS et al. (2002) SNP identification, haplotype analysis, and parental origin of mutations in TSC2.

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Update: Aug. 14, 2020
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