Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.R385del1
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MSH6

NM_000179.3:p.R385del1

Associated Papers

Prevalence and characteristics of lung cancer in families harboring Pathogenic Germline Variants in cancer predisposing genes: A 20-year retrospective analysis.

Laguna JC et al.

European Journal of Cancer (oxford, England : 1990), 2025

DNA Mismatch Repair Gene Variant Classification: Evaluating the Utility of Somatic Mutations and Mismatch Repair Deficient Colonic Crypts and Endometrial Glands.

Walker R et al.

Cancers, 2023

Noncoding Aberrations in Mismatch Repair Genes Underlie a Substantial Part of the Missing Heritability in Lynch Syndrome.

Te Paske IBAW et al.

Gastroenterology, 2022

Comprehensive Constitutional Genetic and Epigenetic Characterization of Lynch-Like Individuals.

Dámaso E et al.

Cancers, 2020

High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers.

González-Acosta M et al.

Journal of Medical Genetics, 2020

31494577 (PubMed )
Supplement: jmedgenet-2019-106272supp001.xlsx › Suppl_Table_S3
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