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

CLPUB00387
Lewis Lemon Coriell, Arthur E. Greene, Richard A. Mulivor;
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 7th edition. October 1980.
(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
Nirmal K. Das, Donald G. Murphy;
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
Hiroki Inui, Kyu-Seon Oh, Carine Nadem, Takahiro Ueda, Sikandar G. Khan, Ahmet Metin, Engin Mevlut Gozukara, Steffen Emmert, Hanoch Slor, David B. Busch, Carl C. Baker ...Show all 22 authors... , John Joseph DiGiovanna, Deborah Tamura, Cornelia S. Seitz, Alexei Gratchev, Wen-Hao Wu, Kee Yang Chung, Hye Jin Chung, Esther Azizi, Roger Woodgate, Thomas D. Schneider, Kenneth H. Kraemer; Show fewer authors
Xeroderma pigmentosum-variant patients from America, Europe, and Asia.
J. Invest. Dermatol. 128:2055-2068(2008)