Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.V321A
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PMS2

NM_000535.7:p.V321A

Associated Papers

MSH3 is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonism.

Mejia Maza A et al.

American Journal of Human Genetics, 2026

41443196 (PubMed )
Supplement: mmc2.xlsx › Table_S12

Germline functional variants contribute to somatic mutation and outcomes in neuroblastoma.

Seo ES et al.

Nature Communications, 2024

39333105 (PubMed )
Supplement: 41467_2024_52128_MOESM4_ESM.xlsx › Supple_Data2_SMC_CPG_list

Prevalence and spectrum of cancer predisposition germline mutations in young patients with the common late-onset cancers.

Hao S et al.

Cancer Medicine, 2023

37610374 (PubMed )
Supplement: CAM4-12-18394-s002.xlsx › Germline_variants

Clinical utility of Todai OncoPanel in the setting of approved comprehensive cancer genomic profiling tests in Japan.

Kage H et al.

Cancer Science, 2023

36601953 (PubMed )
Supplement: CAS-114-1710-s001.xlsx › Sup_Table_3

NGS-based targeted gene mutational profiles in Korean patients with pancreatic cancer.

Jung K et al.

Scientific Reports, 2022

36463295 (PubMed )
Supplement: 41598_2022_24732_MOESM1_ESM.xlsx › S4._Overall_mutation_profile

A lung adenocarcinoma patient harboring MET c. 3028 + 2 T >A variant sensitive to crizotinib treatment.

Jiang R et al.

Investigational New Drugs, 2022

Identification of Lynch Syndrome in Patients with Endometrial Cancer Based on a Germline Next Generation Sequencing Multigene Panel Test.

Kim YN et al.

Cancers, 2022

35884469 (PubMed )
Supplement: cancers-14-03406-s001.zip › cancers-1792460-supplementary.pdf

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 › PMS2

Clinical relevance of pathogenic germline variants in mismatch repair genes in Chinese breast cancer patients.

Hu L et al.

Npj Breast Cancer, 2022

35449176 (PubMed )
Supplement: 41523_2022_417_MOESM2_ESM.xlsx › Supplementary_data_1

Genetic alterations and their therapeutic implications in epithelial ovarian cancer.

Lapke N et al.

Bmc Cancer, 2021

33947352 (PubMed )
Supplement: 12885_2021_8233_MOESM5_ESM.xlsx › Additional_file_5

Prevalence of hereditary breast and ovarian cancer (HBOC) predisposition gene mutations among 882 HBOC high-risk Chinese individuals.

Shao D et al.

Cancer Science, 2020

31742824 (PubMed )
Supplement: CAS-111-647-s002.xlsx › VUS_with_high_level_of_evidence

Findings of a 1303 Korean whole-exome sequencing study.

Kwak SH et al.

Experimental & Molecular Medicine, 2017

28706299 (PubMed )
Supplement: emm2017142x4.xls › Table_S1
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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."