• Mutation; HGNC; 9181; POLH; Simple; p.Lys70Serfs*30 (c.207delG); ClinVar=VCV000005892; Zygosity=Heterozygous (PubMed=10398605; PubMed=11773631; PubMed=26884178).
  
• Mutation; HGNC; 9181; POLH; Simple; p.Leu77del (c.222_224TCT[1]) (c.225_227delTCT) (L75del); ClinVar=VCV000005893; Zygosity=Heterozygous (PubMed=10398605; PubMed=11773631; PubMed=26884178).
  

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PubMed=10022907; DOI=10.1128/mcb.19.3.2206; PMCID=PMC84013
Cordonnier A.M., Lehmann A.R., Fuchs R.P.P.
Impaired translesion synthesis in xeroderma pigmentosum variant extracts.
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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=11773631; DOI=10.1073/pnas.022473899; PMCID=PMC117388
Broughton B.C., Cordonnier A.M., Kleijer W.J., Jaspers N.G.J., Fawcett H., Raams A., Garritsen V.H., Stary A., Avril M.-F., Boudsocq F., Masutani C., Hanaoka F., Fuchs R.P.P., Sarasin A., Lehmann A.R.
Molecular analysis of mutations in DNA polymerase eta in xeroderma pigmentosum-variant patients.
Proc. Natl. Acad. Sci. U.S.A. 99:815-820(2002)

PubMed=18079351; DOI=10.1259/bjr/27072321
Arlett C.F., Green M.H.L., Rogers P.B., Lehmann A.R., Plowman P.N.
Minimal ionizing radiation sensitivity in a large cohort of xeroderma pigmentosum fibroblasts.
Br. J. Radiol. 81:51-58(2008)

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)