Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.Q288delFs
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PMS2

NM_000535.7:p.Q288delFs

Associated Papers

Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.

Lei H et al.

Human Genomics, 2024

38287404 (PubMed )
Supplement: 40246_2024_573_MOESM3_ESM.xls › MSH2

A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes.

Gallon R et al.

Human Mutation, 2019

30740824 (PubMed )
Supplement: HUMU-40-649-s003.xlsx › CMMRD_Cohort

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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