Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.K1491delFs
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TSC2

NM_000548.5:p.K1491delFs

Associated Papers

Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.

Chen JL et al.

Annual Review of Genomics and Human Genetics, 2022

36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › TSC2

Prenatal diagnosis of rhabdomyomas and cerebral tuberous sclerosis by magnetic resonance imaging in one fetus of a dizygotic twin pregnancy associated with a frameshift mutation in the TSC2 gene.

Chen CP et al.

Taiwanese Journal of Obstetrics & Gynecology, 2010

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