Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.D543_F546del4
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PMS2

NM_000535.7:p.D543_F546del4

Associated Papers

Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.

Gusakova M et al.

Frontiers in Oncology, 2024

39301547 (PubMed )
Supplement: DataSheet1.zip › Supplementary_Table_3.XLSX › all_group_1

Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence.

Hassanin E et al.

Bmc Medical Genomics, 2023

36872334 (PubMed )
Supplement: 12920_2023_1469_MOESM1_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."