Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.R1474fs
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TSC2

NM_000548.5:p.R1474fs

Associated Papers

A Rare Case of Progressive Malignant Triton Tumor With Rare Somatic Mutation in TSC2 Gene.

Ghafouri RS et al.

Anticancer Research, 2021

Mutation spectrums of TSC1 and TSC2 in Chinese women with lymphangioleiomyomatosis (LAM).

Liu J et al.

Plos One, 2019

Two novel TSC2 mutations in Chinese patients with tuberous sclerosis complex and a literature review of 20 patients reported in China.

Zhao XY et al.

The British Journal of Dermatology, 2006

Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis.

Niida Y et al.

Human Mutation, 1999

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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."