Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.Q244*
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MSH6

NM_000179.3:p.Q244*

Associated Papers

Tumor analysis of MMR genes in Lynch-like syndrome: Challenges associated with results interpretation.

Rofes P et al.

Cancer Medicine, 2024

38558366 (PubMed )
Supplement: CAM4-13-e7041-s004.xlsx › Table_S3_VAF_5_

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

Temozolomide Treatment Alters Mismatch Repair and Boosts Mutational Burden in Tumor and Blood of Colorectal Cancer Patients.

Crisafulli G et al.

Cancer Discovery, 2022

35522273 (PubMed )
Supplement: cd-21-1434_supplementary_figures_and_tables_suppsf1-sf7st1-st3.pdf

The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly.

Pinese M et al.

Nature Communications, 2020

31974348 (PubMed )
Supplement: 41467_2019_14079_MOESM4_ESM.xlsx › Somatic

Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations.

Johnston JJ et al.

American Journal of Human Genetics, 2015

Upper and Lower Gastrointestinal Findings in PTEN Mutation-Positive Cowden Syndrome Patients Participating in an Active Surveillance Program.

Levi Z et al.

Clinical and Translational Gastroenterology, 2011

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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."