Associated Papers
Genotype-phenotype correlations in PMS2-associated constitutional mismatch repair deficiency: a systematic literature review.
Munteanu CV 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
PMS2 or PMS2CL? Characterization of variants detected in the 3' of the PMS2 gene.
Bouras A et al.
Genes, Chromosomes & Cancer, 2024
Co-Occurrence of Germline Genomic Variants and Copy Number Variations in Hereditary Breast and Colorectal Cancer Patients.
Côrtes L et al.
Genes, 2023
37628631 (PubMed )
Supplement: genes-14-01580-s001.zip › genes-2526806-supplementary.xlsx › index_case_2_CNVs
Characterisation of heterozygous PMS2 variants in French patients with Lynch syndrome.
Wang Q et al.
Journal of Medical Genetics, 2020
A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes.
Gallon R et al.
Human Mutation, 2019
30740824 (PubMed )
Supplement: HUMU-40-649-s003.xlsx › CMMRD_Cohort
Select a paper to view details