Varaico: Literature-Extracted Genetic Variants

Gene:MSH3
Variant:p.S920delFs
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MSH3

NM_002439.5:p.S920delFs

Associated Papers

Compound heterozygous MSH3 germline variants and associated tumor somatic DNA mismatch repair dysfunction.

Koi M et al.

Npj Precision Oncology, 2024

MSH3: a confirmed predisposing gene for adenomatous polyposis.

Villy MC et al.

Journal of Medical Genetics, 2023

Germline pathogenic variants in 786 neuroblastoma patients.

Kim J et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

36747619 (PubMed )
Supplement: media-1.pdf

A large family with MSH3-related polyposis.

Aelvoet AS et al.

Familial Cancer, 2023

Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Qin Z et al.

Life Science Alliance, 2022

35595529 (PubMed )
Supplement: LSA-2021-01319_TableS1.xlsx › Sheet_1

Genotypic and Phenotypic Characteristics of Hereditary Colorectal Cancer.

Kim JC et al.

Annals of Coloproctology, 2021

Variant profiling of colorectal adenomas from three patients of two families with MSH3-related adenomatous polyposis.

Perne C et al.

Plos One, 2021

Advances in Identification of Susceptibility Gene Defects of Hereditary Colorectal Cancer.

Liu Q et al.

Journal of Cancer, 2019

Recent Discoveries in the Genetics of Familial Colorectal Cancer and Polyposis.

Valle L

Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association, 2017

Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.

Adam R et al.

American Journal of Human Genetics, 2016

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