Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.G153Splc
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MSH6

NM_000179.3:p.G153Splc

Associated Papers

Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.

Li J et al.

Genes & Diseases, 2026

41624906 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.

Zhao B et al.

Bmc Cancer, 2024

38575974 (PubMed )
Supplement: 12885_2024_12160_MOESM6_ESM.xlsx › Sheet1

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

Compound Heterozygous Variants in Pediatric Cancers: A Systematic Review.

Miller DB et al.

Frontiers in Genetics, 2020

32508881 (PubMed )
Supplement: Data_Sheet_1.xlsx › T2

Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines.

Herkert JC et al.

European Journal of Cancer (oxford, England : 1990), 2011

The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations.

Durno CA et al.

The American Journal of Gastroenterology, 2010

Compound heterozygosity for two MSH6 mutations in a patient with early onset colorectal cancer, vitiligo and systemic lupus erythematosus.

Rahner N et al.

American Journal of Medical Genetics. Part A, 2008

Medulloblastoma, acute myelocytic leukemia and colonic carcinomas in a child with biallelic MSH6 mutations.

Scott RH et al.

Nature Clinical Practice. Oncology, 2007

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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."