• Mutation; HGNC; 9181; POLH; Simple; p.Glu306Ter (c.916G>T); ClinVar=VCV000005887; Zygosity=Unspecified (PubMed=10385124).
  

PubMed=1702221; DOI=10.1073/pnas.87.24.9908
Satokata I., Tanaka K., Miura N., Miyamoto I., Satoh Y., Kondo S., Okada Y.
Characterization of a splicing mutation in group A xeroderma pigmentosum.
Proc. Natl. Acad. Sci. U.S.A. 87:9908-9912(1990)

PubMed=7830260; DOI=10.1269/jrr.35.168
Fujikawa K., Ayaki H., Ishizaki K., Takatera H., Matsuo S., Iizuka H., Koizumi H., Ikenaga M.
Assignment of six patients with xeroderma pigmentosum in Hokkaido area to a variant form.
J. Radiat. Res. 35:168-178(1994)

PubMed=10385124; DOI=10.1038/21447
Masutani C., Kusumoto R., Yamada A., Dohmae N., Yokoi M., Yuasa M., Araki M., Iwai S., Takio K., Hanaoka F.
The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta.
Nature 399:700-704(1999)

PubMed=10771487; DOI=10.1046/j.1523-1747.2000.00952.x
Itoh T., Linn S.M., Ono T., Yamaizumi M.
Reinvestigation of the classification of five cell strains of xeroderma pigmentosum group E with reclassification of three of them.
J. Invest. Dermatol. 114:1022-1029(2000)

PubMed=29892436; DOI=10.1098/rsos.172472
Shioda S., Kasai F., Watanabe K., Kawakami K., Ohtani A., Iemura M., Ozawa M., Arakawa A., Hirayama N., Kawaguchi E., Tano T., Miyata S., Satoh M., Shimizu N., Kohara A.
Screening for 15 pathogenic viruses in human cell lines registered at the JCRB Cell Bank: characterization of in vitro human cells by viral infection.
R. Soc. Open Sci. 5:172472-172472(2018)