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
Cockayne Syndrome: The many challenges and approaches to understand a multifaceted disease.
Vessoni AT et al.
Genetics and Molecular Biology, 2020
32453336 (PubMed )
Supplement: 1415-4757-GMB-43-1-s1-e20190085-suppl1.pdf
Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome.
Calmels N et al.
Journal of Medical Genetics, 2018
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
Laugel V et al.
Human Mutation, 2010
Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome.
Mallery DL et al.
American Journal of Human Genetics, 1998
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