Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.W82*
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TSC2

NM_000548.5:p.W82*

Associated Papers

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

Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex.

Tyburczy ME et al.

Human Molecular Genetics, 2014

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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."