Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.S547fs
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PMS2

NM_000535.7:p.S547fs

Associated Papers

Comprehensive Analysis of Oncogenic Somatic Alterations of Mismatch Repair Gene in Breast Cancer Patients.

Yan Y et al.

Bioengineering (basel, Switzerland), 2025

40281786 (PubMed )
Supplement: bioengineering-12-00426-s001.zip › bioengineering-3511082-supplementary.pdf

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 › PMS2

Mismatch repair deficiency in early-onset duodenal, ampullary, and pancreatic carcinomas is a strong indicator for a hereditary defect.

Kryklyva V et al.

The Journal of Pathology. Clinical Research, 2022

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