Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.R248delFs
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MSH6

NM_000179.3:p.R248delFs

Associated Papers

Whole genome sequencing-based analysis of genetic predisposition to adult glioblastoma.

van Opijnen MP et al.

Npj Genomic Medicine, 2025

Building a hereditary cancer program in Colombia: analysis of germline pathogenic and likely pathogenic variants spectrum in a high-risk cohort.

Sanabria-Salas MC et al.

European Journal of Human Genetics : Ejhg, 2025

Phase separation as a possible mechanism for dosage sensitivity.

Yang L et al.

Genome Biology, 2024

38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD-escaping_mutations

Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.

Mian A et al.

Bjui Compass, 2023

36816149 (PubMed )
Supplement: BCO2-4-156-s001.xlsx › sTable_1

Pathogenic Variant Profile of Hereditary Cancer Syndromes in a Vietnamese Cohort.

Tran VT et al.

Frontiers in Oncology, 2021

Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing.

Lu HM et al.

Jama Oncology, 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."