Associated Papers
Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.
Li J et al.
Genes & Diseases, 2026
41624906 (PubMed )
Supplement: mmc1.xlsx › Sheet1
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 2024
38575974 (PubMed )
Supplement: 12885_2024_12160_MOESM6_ESM.xlsx › Sheet1
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
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V et al.
American Journal of Human Genetics, 2022
36413997 (PubMed )
Supplement: mmc4.xlsx › clinvar_20201219
DNA2 mutation causing multisystemic disorder with impaired mitochondrial DNA maintenance.
Sun J et al.
Journal of Human Genetics, 2022
Multiple roles of DNA2 nuclease/helicase in DNA metabolism, genome stability and human diseases.
Zheng L et al.
Nucleic Acids Research, 2020
Novel mutations in DNA2 associated with myopathy and mtDNA instability.
Ronchi D et al.
Annals of Clinical and Translational Neurology, 2019
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