Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.G382Splc
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PMS2

NM_000535.7:p.G382Splc

Associated Papers

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

PMS2CL interference leading to erroneous identification of a pathogenic PMS2 variant in Black patients.

Cappadocia J et al.

Genetics in Medicine Open, 2024

39669620 (PubMed )
Supplement: mmc1.pdf

Genetic Polymorphisms of DNA Repair Pathways in Sporadic Colorectal Carcinogenesis.

Liu J et al.

Journal of Cancer, 2019

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