Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.K301_V302Splc
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PMS2

NM_000535.7:p.K301_V302Splc

Associated Papers

The evolutionary impact of childhood cancer on the human gene pool.

Stoltze UK et al.

Nature Communications, 2024

38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_10

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

Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk pediatric cancer.

Wong M et al.

Nature Medicine, 2020

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