Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.E75_H76Splc
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TSC2

NM_000548.5:p.E75_H76Splc

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

Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing.

Tyburczy ME et al.

Plos Genetics, 2015

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