Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.K301_V302Splc
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PMS2

NM_000535.7:p.K301_V302Splc

Associated Papers

Genetic counseling for hereditary cancer syndromes: a 5-year experience from a single center in Bulgaria.

Hachmeriyan M 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

Targeted next generation sequencing in Chinese colorectal cancer patients guided anti-EGFR treatment and facilitated precision cancer medicine.

Hou H et al.

Oncotarget, 2017

29285234 (PubMed )
Supplement: oncotarget-08-105072-s002.xlsx › Data

Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing.

Rohlin A et al.

Familial Cancer, 2017

Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.

LaDuca H et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2014

24763289 (PubMed )
Supplement: gim201440x3.xls › 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."