Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.Q701_L702insFs
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TSC1

NM_000368.5:p.Q701_L702insFs

Associated Papers

Low-Level Mosaicism in Tuberous Sclerosis Complex (TSC): Diagnostic and Clinical Implications From Two Novel Cases and Literature Review.

Ambrosetti I et al.

American Journal of Medical Genetics. Part A, 2026

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

High-resolution melting analysis is a more effective approach for screening TSC genes mutations.

Tsai TS et al.

Genetic Testing and Molecular Biomarkers, 2011

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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."