• Mutation; HGNC; 12814; XPA; Simple; c.507-1G>T (IVS3-1G>T); Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=GM02250).
  
• Mutation; HGNC; 12814; XPA; Simple; p.Gln185His (c.555G>C); ClinVar=VCV000550646; Zygosity=Heterozygous; Note=Also produces mis-splicing (Coriell=GM02250).
  

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PubMed=8327515; DOI=10.1073/pnas.90.13.6335
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DNA excision-repair defect of xeroderma pigmentosum prevents removal of a class of oxygen free radical-induced base lesions.
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Identical defects in DNA repair in xeroderma pigmentosum group G and rodent ERCC group 5.
Nature 363:185-188(1993)

PubMed=8823375; DOI=10.1111/1523-1747.ep12584287
Moriwaki S.-i., Stefanini M., Lehmann A.R., Hoeijmakers J.H.J., Robbins J.H., Rapin I., Botta E., Tanganelli B., Vermeulen W., Broughton B.C., Kraemer K.H.
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