Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.Q767*
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TSC1

NM_000368.5:p.Q767*

Associated Papers

Genetic validation of a TSC2 immunohistochemistry assay in TSC/mTOR-pathway altered renal tumors.

Akbari A et al.

Human Pathology, 2024

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

Eosinophilic vacuolated tumor (EVT) of kidney demonstrates sporadic TSC/MTOR mutations: next-generation sequencing multi-institutional study of 19 cases.

Farcaş M et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022

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

Organoid Models of Human Liver Cancers Derived from Tumor Needle Biopsies.

Nuciforo S et al.

Cell Reports, 2018

30067989 (PubMed )
Supplement: mmc5.xlsx › Sheet1
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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."