Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.H1135delFs
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TSC2

NM_000548.5:p.H1135delFs

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

Mutation spectrums of TSC1 and TSC2 in Chinese women with lymphangioleiomyomatosis (LAM).

Liu J et al.

Plos One, 2019

31856217 (PubMed )
Supplement: pone.0226400.s008.xlsx › Sheet1
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