Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.E636fs
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TSC1

NM_000368.5:p.E636fs

Associated Papers

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

Germline mutations of renal cancer predisposition genes and clinical relevance in Chinese patients with sporadic, early-onset disease.

Wu J et al.

Cancer, 2019

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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."