• Mutation; HGNC; HGNC:12814; XPA; Simple; p.Cys105Tyr (c.314G>A); ClinVar=VCV002242179; Zygosity=Homozygous (PubMed=26743599; PubMed=26884178).
  

PubMed=26743599; DOI=10.1016/j.jid.2015.12.031
Sethi M., Haque S., Fawcett H., Wing J.F., Chandler N., Mohammed S., Frayling I.M., Norris P.G., McGibbon D., Young A.R., Sarkany R.P.E., Lehmann A.R., Fassihi H.
A distinct genotype of XP complementation group A: surprisingly mild phenotype highly prevalent in Northern India/Pakistan/Afghanistan.
J. Invest. Dermatol. 136:869-872(2016)

PubMed=26884178; DOI=10.1073/pnas.1519444113; PMCID=PMC4780618
Fassihi H., Sethi M., Fawcett H., Wing J.F., Chandler N., Mohammed S., Craythorne E., Morley A.M.S., Lim R.-X., Turner S., Henshaw T., Garrood I., Giunti P., Hedderly T., Abiona A., Naik H., Harrop G., McGibbon D., Jaspers N.G.J., Botta E., Nardo T., Stefanini M., Young A.R., Sarkany R.P.E., Lehmann A.R.
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.
Proc. Natl. Acad. Sci. U.S.A. 113:E1236-E1245(2016)