Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.Q655delFs
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TSC1

NM_000368.5:p.Q655delFs

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 › TSC1

The Correlation Between Tuberous Sclerosis Complex Genotype and Renal Angiomyolipoma Phenotype.

Zhang N et al.

Frontiers in Genetics, 2020

33679864 (PubMed )
Supplement: Table_1.XLSX › Sheet1

Mutational analyses of the TSC1 and TSC2 genes in cases of tuberous sclerosis complex in Chinese Han children.

Wang GX et al.

Genetics and Molecular Research : Gmr, 2013

A novel TSC1 mutation (c.1964delA) in a Chinese patient with tuberous sclerosis complex.

Wang GX et al.

Genetics and Molecular Research : Gmr, 2011

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."