Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.I531I
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TSC2

NM_000548.5:p.I531I

Associated Papers

Mutation characteristics of cancer susceptibility genes in Chinese ovarian cancer patients.

Wang J et al.

Frontiers in Oncology, 2024

38817903 (PubMed )
Supplement: Table_3.xlsx › Sheet1

Two novel TSC2 mutations in renal epithelioid angiomyolipoma sensitive to everolimus.

Wang T et al.

Cancer Biology & Therapy, 2020

Two Novel AGXT Mutations Cause the Infantile Form of Primary Hyperoxaluria Type I in a Chinese Family: Research on Missed Mutation.

Lu X et al.

Frontiers in Pharmacology, 2019

30787879 (PubMed )
Supplement: Data_Sheet_1.PDF

Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.

Hung CC et al.

Bmc Medical Genetics, 2006

Novel TSC2 mutations and decreased expression of tuberin in cultured tumor cells with an insertion mutation.

Feng JH et al.

Human Mutation, 2004

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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."