• Mutation; HGNC; HGNC:9181; POLH; Simple; p.Asp360Glyfs*32 (c.1078dupG) (c.1078_1079dupG); ClinVar=VCV001696282; Zygosity=Homozygous (PubMed=18368133).
  

CLPUB00387
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(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 80-2011; pp.1-254; National Institutes of Health; Bethesda; USA (1980)

PubMed=7253718; DOI=10.1016/0047-6374(81)90027-0
Das N.K., Murphy D.G.
The National Institute on Aging repository cell cultures.
Mech. Ageing Dev. 16:1-17(1981)

PubMed=18368133; DOI=10.1038/jid.2008.48; PMCID=PMC2562952
Inui H., Oh K.-S., Nadem C., Ueda T., Khan S.G., Metin A., Gozukara E.M., Emmert S., Slor H., Busch D.B., Baker C.C., DiGiovanna J.J., Tamura D., Seitz C.S., Gratchev A., Wu W.-H., Chung K.Y., Chung H.J., Azizi E., Woodgate R., Schneider T.D., Kraemer K.H.
Xeroderma pigmentosum-variant patients from America, Europe, and Asia.
J. Invest. Dermatol. 128:2055-2068(2008)