Associated Papers
Genotype-phenotype correlations in PMS2-associated constitutional mismatch repair deficiency: a systematic literature review.
Munteanu CV et al.
Oncology Reviews, 2025
Somatic CpG hypermutation is associated with mismatch repair deficiency in cancer.
Flynn A et al.
Molecular Systems Biology, 2024
39026103 (PubMed )
Supplement: 44320_2024_54_MOESM1_ESM.xlsx › TableS1
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
Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.
He J et al.
Frontiers in Genetics, 2024
38948361 (PubMed )
Supplement: Table6.XLSX › Sheet1
Constitutional mismatch repair deficiency (CMMRD) presenting with high-grade glioma, multiple developmental venous anomalies and malformations of cortical development-a multidisciplinary/multicentre approach and neuroimaging clues to clinching the diagnosis.
Chhabda S et al.
Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2021
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