• Mutation; HGNC; HGNC:12816; XPC; Simple; p.Met1Arg (c.2T>G); ClinVar=VCV001066146; Zygosity=Homozygous (PubMed=18955168).
  

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=9804340; DOI=10.1046/j.1523-1747.1998.00391.x
Sikandar G. Khan, Harvey Louis Levy, Randy J. Legerski, Elizabeth Quackenbush, Joyce T. Reardon, Steffen Emmert, Aziz Sancar, Lei Li, Thomas D. Schneider, James Edward Cleaver, Kenneth H. Kraemer;
Xeroderma pigmentosum group C splice mutation associated with autism and hypoglycinemia.
J. Invest. Dermatol. 111:791-796(1998)

PubMed=18955168; DOI=10.1016/j.dnarep.2008.09.007; PMCID=PMC2684809
Sikandar G. Khan, Kyu-Seon Oh, Steffen Emmert, Kyoko Imoto, Deborah Tamura, John Joseph DiGiovanna, Tala Shahlavi, Najealicka Armstrong, Carl C. Baker, Marcy Neuburg, Christopher Zalewski ...Show all 15 authors... , Carmen C. Brewer, Edythe Wiggs, Raphael Schiffmann, Kenneth H. Kraemer; Show fewer authors
XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms.
DNA Repair 8:114-125(2009)