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Sci."},{"key":"10.1016\/j.mrrev.2022.108416_bib100","doi-asserted-by":"crossref","first-page":"807","DOI":"10.1016\/j.ajhg.2013.04.007","article-title":"Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes cockayne syndrome, xeroderma pigmentosum, and fanconi anemia","volume":"92","author":"Kashiyama","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.mrrev.2022.108416_bib101","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s12881-018-0520-1","article-title":"Fanconi anemia with sun-sensitivity caused by a Xeroderma pigmentosum-associated missense mutation in XPF","volume":"19","author":"Popp","year":"2018","journal-title":"BMC Med. 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Ophthalmol."},{"key":"10.1016\/j.mrrev.2022.108416_bib140","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1080\/000155500750043032","article-title":"Rare case of Cockayne syndrome with Xeroderma pigmentosum","volume":"80","author":"Bartenjev","year":"2000","journal-title":"Acta Derm. Venereol."},{"key":"10.1016\/j.mrrev.2022.108416_bib141","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1016\/0921-8777(95)00038-0","article-title":"Identification of a damaged-DNA binding domain of the XPA protein","volume":"362","author":"Kuraoka","year":"1996","journal-title":"Mutat. Res."},{"key":"10.1016\/j.mrrev.2022.108416_bib142","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1016\/0921-8777(92)90081-D","article-title":"Identification of splicing mutations of the last nucleotides of exons, a nonsense mutation, and a missense mutation of the XPAC gene as causes of group A xeroderma pigmentosum","volume":"273","author":"Satokata","year":"1992","journal-title":"Mutat. 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