Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.K593delFs
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PMS2

NM_000535.7:p.K593delFs

Associated Papers

Clinical and genetic features of multiple primary tumours cohorts with a renal cell carcinoma: Implications for molecular genetic investigations.

Zhang H et al.

International Journal of Cancer, 2025

Whole genome sequencing refines stratification and therapy of patients with clear cell renal cell carcinoma.

Culliford R et al.

Nature Communications, 2024

39009593 (PubMed )
Supplement: 41467_2024_49692_MOESM4_ESM.xlsx › Supp._Data_3

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

Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Qin Z et al.

Life Science Alliance, 2022

35595529 (PubMed )
Supplement: LSA-2021-01319_TableS1.xlsx › Sheet_1

Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases.

Yngvadottir B et al.

Human Molecular Genetics, 2022

Exome sequencing and characterization of 49,960 individuals in the UK Biobank.

Van Hout CV et al.

Nature, 2020

33087929 (PubMed )
Supplement: 41586_2020_2853_MOESM11_ESM.xlsx › Sheet1
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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."