Associated Papers
TFIIH central activity in nucleotide excision repair to prevent disease.
Theil AF et al.
Dna Repair, 2023
Cerebro-oculo-facio-skeletal syndrome caused by the homozygous pathogenic variant Gly47Arg in ERCC2.
Reunert J et al.
American Journal of Medical Genetics. Part A, 2021
Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population.
Pugh J et al.
Jama Dermatology, 2019
Expansion of the genotypic and phenotypic spectrum of xeroderma pigmentosum in Chinese population.
Zhang J et al.
Photodermatology, Photoimmunology & Photomedicine, 2017
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