Associated Papers
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: Table3.XLSX › Sheet1
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
35595529 (PubMed )
Supplement: LSA-2021-01319_TableS1.xlsx › Sheet_1
Genetic skin disorders: The value of a multidisciplinary clinic.
Parker JC et al.
American Journal of Medical Genetics. Part A, 2021
Challenges in reporting pathogenic/potentially pathogenic variants in 94 cancer predisposing genes - in pediatric patients screened with NGS panels.
Chirita-Emandi A et al.
Scientific Reports, 2020
Xeroderma pigmentosum in South Africa: Evidence for a prevalent founder effect.
Kgokolo M et al.
The British Journal of Dermatology, 2019
Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population.
Pugh J et al.
Jama Dermatology, 2019
A novel frameshift mutation in the XPC gene in a Moroccan patient: a case report.
Doubaj Y et al.
Journal of Medical Case Reports, 2017
Unexpected extradermatological findings in 31 patients with xeroderma pigmentosum type C.
Hadj-Rabia S et al.
The British Journal of Dermatology, 2013
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