• Mutation; HGNC; HGNC:9181; POLH; Simple; p.Thr122Pro (c.364A>C); Zygosity=Heterozygous (PubMed=11773631).
  
• Mutation; HGNC; HGNC:9181; POLH; Simple; p.Thr408Leufs*36 (c.1222_1225delACTT) (Fs407); ClinVar=VCV002431387; Zygosity=Heterozygous (PubMed=11773631).
  

PubMed=11773631; DOI=10.1073/pnas.022473899; PMCID=PMC117388
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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=26884178; DOI=10.1073/pnas.1519444113; PMCID=PMC4780618
Hiva Fassihi, Mieran Sethi, Heather Fawcett, Jonathan F. Wing, Natalie Chandler, Shehla Mohammed, Emma Craythorne, Ana M.S. Morley, Rong-Xuan Lim, Sally Turner, Tanya Henshaw ...Show all 25 authors... , Isabel Garrood, Paola Giunti, Tammy Hedderly, Adesoji Abiona, Harsha Naik, Gemma Harrop, David McGibbon, Nicolaas G.J. Jaspers, Elena Botta, Tiziana Nardo, Miria Stefanini, Antony R. Young, Robert Paul Edmond Sarkany, Alan R. Lehmann; Show fewer authors
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)