Associated Papers
Novel Findings in Pediatric and Adolescent Patients With Cancer and a Germline SMARCA4 Variant.
van Engelen N et al.
Pediatric Blood & Cancer, 2025
40580017 (PubMed )
Supplement: supplement_1.docx
Secondary findings in genes related to cancer phenotypes in Turkish exome sequencing data from 2020 individuals.
Demir O et al.
American Journal of Medical Genetics. Part A, 2024
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 › MSH2
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.
Zhang L et al.
Journal of Medical Genetics, 2022
34172528 (PubMed )
Supplement: jmedgenet-2021-107886supp006.xlsx › MSH2
Dominant versus recessive traits conveyed by allelic mutations - to what extent is nonsense-mediated decay involved?
Ben-Shachar S et al.
Clinical Genetics, 2009
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