Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.S331fs
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TSC1

NM_000368.5:p.S331fs

Associated Papers

Molecular and Functional Assessment of TSC1 and TSC2 in Individuals with Tuberous Sclerosis Complex.

Dufner-Almeida LG et al.

Genes, 2024

The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations.

Villani A et al.

Nature Cancer, 2023

36585449 (PubMed )
Supplement: 43018_2022_474_MOESM10_ESM.xlsx › Table_S5_-_Category_C_variants

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

A phase 2 trial of buparlisib in patients with platinum-resistant metastatic urothelial carcinoma.

McPherson V et al.

Cancer, 2020

TSC1 and TSC2 Gene Mutations in Chinese Tuberous Sclerosis Complex Patients Clinically Characterized by Epilepsy.

He J et al.

Genetic Testing and Molecular Biomarkers, 2020

Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex.

Salussolia CL et al.

Annual Review of Genomics and Human Genetics, 2019

Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis.

Rosset C et al.

Plos One, 2017

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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."