Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.S331fs
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TSC1

NM_000368.5:p.S331fs

Associated Papers

Malignant tumors in tuberous sclerosis complex: a case report and review of the literature.

Liu C et al.

Bmc Medical Genomics, 2024

Positive GPNMB Immunostaining Differentiates Renal Cell Carcinoma With Fibromyomatous Stroma Associated With TSC1/2/MTOR Alterations From Others.

Li H et al.

The American Journal of Surgical Pathology, 2023

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

Pancreatic Neuroendocrine Tumor in a Young Child With Tuberous Sclerosis Complex 1.

Mehta S et al.

Journal of the Endocrine Society, 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."