Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.S1431L
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TSC2

NM_000548.5:p.S1431L

Associated Papers

Multimodal framework to resolve variants of uncertain significance in TSC2.

Biar CG et al.

Biorxiv : the Preprint Server for Biology, 2024

38895336 (PubMed )
Supplement: media-2.xlsx › Table_S2

Mild TSC phenotype and non-penetrance associated with a frameshift variant in TSC2 prompts caution in evaluating pathogenicity of frameshift variants.

Farach LS et al.

Gene, 2023

A risk-associated Active transcriptome phenotype expressed by histologically normal human breast tissue and linked to a pro-tumorigenic adipocyte population.

Kang T et al.

Breast Cancer Research : Bcr, 2020

32736587 (PubMed )
Supplement: 13058_2020_1322_MOESM3_ESM.xlsx › All_Calls

Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Dong X et al.

Communications Biology, 2020

31925297 (PubMed )
Supplement: 42003_2019_736_MOESM10_ESM.xlsx › Sheet1

Discordant Mutations in Paired Primary and Metastatic Endometrial Adenocarcinomas Identified by Semiconductor-Based Sequencing for Rapid Cancer Genotyping.

Bergstrom CP et al.

Reproductive Sciences (thousand Oaks, Calif.), 2016

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