Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.S8Splc
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PMS2

NM_000535.7:p.S8Splc

Associated Papers

Genotype-phenotype correlations in PMS2-associated constitutional mismatch repair deficiency: a systematic literature review.

Munteanu CV et al.

Oncology Reviews, 2025

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

Opportunistic genetic screening increases the diagnostic yield and is medically valuable for care of patients and their relatives with hereditary cancer.

Fernández-Castillejo S et al.

Journal of Medical Genetics, 2023

Comprehensive genomic profiling reveals prognostic signatures and insights into the molecular landscape of colorectal cancer.

Yang J et al.

Frontiers in Oncology, 2023

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_S1

Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk.

ten Broeke SW et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2015

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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."