Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.N45T
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PMS2

NM_000535.7:p.N45T

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

Loss of heterozygosity does not occur in BRCA1/2 mutant pediatric solid and central nervous system tumors.

Groves A et al.

Pediatric Blood & Cancer, 2023

Predictive functional assay-based classification of PMS2 variants in Lynch syndrome.

Rayner E et al.

Human Mutation, 2022

Compound Heterozygous Variants in Pediatric Cancers: A Systematic Review.

Miller DB et al.

Frontiers in Genetics, 2020

32508881 (PubMed )
Supplement: Data_Sheet_1.xlsx › T2

Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium.

Bakry D et al.

European Journal of Cancer (oxford, England : 1990), 2014

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