Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.W82*
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TSC2

NM_000548.5:p.W82*

Associated Papers

Retrospective Analysis of Canadian Adults with Tuberous Sclerosis Complex.

Pal D et al.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2024

Germline mutation of TSC1 or TSC2 gene in Chinese patients with bilateral renal angiomyolipomas and mutation spectrum of Chinese TSC patients.

Jiangyi W et al.

Aging, 2020

31927531 (PubMed )
Supplement: aging-12-102654-s001..xlsx › supplementary_table1

A Renal Cell Carcinoma with Biallelic Somatic TSC2 Mutation: Clinical Study and Literature Review.

Pang J et al.

Urology, 2019

A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Zheng J et al.

Molecular Genetics & Genomic Medicine, 2019

31165590 (PubMed )
Supplement: MGG3-7-e00748-s004.xlsx › Variants_information

Are Sporadic Eosinophilic Solid and Cystic Renal Cell Carcinomas Characterized by Somatic Tuberous Sclerosis Gene Mutations?

Parilla M et al.

The American Journal of Surgical Pathology, 2018

Renal cell carcinoma harboring somatic TSC2 mutations in a child with methylmalonic acidemia.

Potter SL et al.

Pediatric Blood & Cancer, 2017

Quick genetic screening using targeted next-generation sequencing in patients with tuberous sclerosis.

Liu Q et al.

Journal of Child Neurology, 2015

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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."