• Mutation; HGNC; HGNC:9181; POLH; Simple; p.Trp297Ter (c.890G>A); ClinVar=VCV000005888; Zygosity=Heterozygous (PubMed=10385124).
  
• Mutation; HGNC; HGNC:9181; POLH; Unexplicit; Large deletion; Zygosity=Heterozygous (PubMed=10385124).
  

PubMed=4778857; DOI=10.1016/0027-5107(73)90062-6
Wim J. Kleijer, Elizabeth Anna de Weerd-Kastelein, Milou L. Sluyter, Wilma Keijzer, Jan de Wit, Dirk Bootsma;
UV-induced DNA repair synthesis in cells of patients with different forms of xeroderma pigmentosum and of heterozygotes.
Mutat. Res. 20:417-428(1973)

PubMed=10385124; DOI=10.1038/21447
Chikahide Masutani, Rika Kusumoto, Ayumi Yamada, Naoshi Dohmae, Masayuki Yokoi, Mayumi Yuasa, Marito Araki, Shigenori Iwai, Koji Takio, Fumio Hanaoka;
The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta.
Nature 399:700-704(1999)

PubMed=11773631; DOI=10.1073/pnas.022473899; PMCID=PMC117388
Bernard C. Broughton, Agnes M. Cordonnier, Wim J. Kleijer, Nicolaas G.J. Jaspers, Heather Fawcett, Anja Raams, Victor H. Garritsen, Anne Stary, Marie-Francoise Avril, Francois Boudsocq, Chikahide Masutani ...Show all 15 authors... , Fumio Hanaoka, Robert P.P. Fuchs, Alain Sarasin, Alan Robert Lehmann; Show fewer authors
Molecular analysis of mutations in DNA polymerase eta in xeroderma pigmentosum-variant patients.
Proc. Natl. Acad. Sci. U.S.A. 99:815-820(2002)