• Mutation; HGNC; HGNC:9181; POLH; Simple; p.Gln373Ter (c.1117C>T); ClinVar=VCV000005890; Zygosity=Homozygous (PubMed=10398605; PubMed=26884178).
  

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PubMed=3010096; DOI=10.1016/0167-8817(86)90052-0
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CLPUB00447
Mulivor R.A., Suchy S.F.
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PubMed=10398605; DOI=10.1126/science.285.5425.263
Johnson R.E., Kondratick C.M., Prakash S., Prakash L.
hRAD30 mutations in the variant form of xeroderma pigmentosum.
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PubMed=10655550; DOI=10.1093/hmg/9.3.403
Ouellette M.M., McDaniel L.D., Wright W.E., Shay J.W., Schultz R.A.
The establishment of telomerase-immortalized cell lines representing human chromosome instability syndromes.
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PubMed=17409408; DOI=10.1158/0008-5472.CAN-06-3073
Wang Y., Woodgate R., McManus T.P., Mead S., McCormick J.J., Maher V.M.
Evidence that in xeroderma pigmentosum variant cells, which lack DNA polymerase eta, DNA polymerase iota causes the very high frequency and unique spectrum of UV-induced mutations.
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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)