Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.A38V
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PMS2

NM_000535.7:p.A38V

Associated Papers

Germline homologous recombination repair (gHRR) variants in bladder cancer: Preliminary evidence and clinical implications.

Hurle R et al.

Bjui Compass, 2025

Incidental germline findings during comprehensive genomic profiling of pancreatic and colorectal cancer: single-centre, molecular tumour board experience.

Eid M et al.

Mutagenesis, 2025

Occurrence of variants of unknown clinical significance in genetic testing for hereditary breast and ovarian cancer syndrome and Lynch syndrome: a literature review and analytical observational retrospective cohort study.

Adam F et al.

Bmc Medical Genomics, 2023

36647026 (PubMed )
Supplement: 12920_2023_1437_MOESM2_ESM.xlsx › all_cases

Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.

Zhang L et al.

Journal of Medical Genetics, 2022

34172528 (PubMed )
Supplement: jmedgenet-2021-107886supp003.xlsx › MSH6

Rates of Variants of Uncertain Significance Among Patients With Breast Cancer Undergoing Genetic Testing: Regional Perspectives.

Abdel-Razeq H et al.

Frontiers in Oncology, 2022

Rare germline variants in DNA repair-related genes are accountable for papillary thyroid cancer susceptibility.

Mio C et al.

Endocrine, 2021

Whole exome sequencing in familial isolated primary hyperparathyroidism.

Cetani F et al.

Journal of Endocrinological Investigation, 2020

Functional significance of U2AF1 S34F mutations in lung adenocarcinomas.

Esfahani MS et al.

Nature Communications, 2019

31836708 (PubMed )
Supplement: 41467_2019_13392_MOESM4_ESM.xlsx › Sheet1

Patterns and functional implications of rare germline variants across 12 cancer types.

Lu C et al.

Nature Communications, 2015

26689913 (PubMed )
Supplement: ncomms10086-s13.xlsx › supplementary_data_12
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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."