Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.E636delFs
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TSC1

NM_000368.5:p.E636delFs

Associated Papers

Comparative analysis of RNA expression in a single institution cohort of pediatric cancer patients.

Vasquez YA et al.

Npj Precision Oncology, 2025

40119139 (PubMed )
Supplement: 41698_2025_852_MOESM11_ESM.xlsx › Supplementary_Data_9

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

Dufner-Almeida LG et al.

Genes, 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

Somatic mutations involving TSC 1 and TSC2 genes in two children with focal cortical dysplasia.

Jha R et al.

Brain & Development, 2022

Dissecting the genetic basis of focal cortical dysplasia: a large cohort study.

Baldassari S et al.

Acta Neuropathologica, 2019

PI3K/AKT/mTOR pathway in pulmonary carcinoid tumours.

Zhang Z et al.

Oncology Letters, 2017

Bladder Cancer and Genetic Mutations.

Zhang X et al.

Cell Biochemistry and Biophysics, 2015

Genome sequencing identifies a basis for everolimus sensitivity.

Iyer G et al.

Science (new York, N.y.), 2012

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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."