• Mutation; HGNC; HGNC:2718; DDB2; Simple; p.Asn349del (c.1045_1047delAAC); ClinVar=VCV002137064; Zygosity=Heterozygous (PubMed=10777490; PubMed=12812979; PubMed=26184184).
  
• Mutation; HGNC; HGNC:2718; DDB2; Simple; p.Leu350Pro (c.1049T>C); ClinVar=VCV002137065; Zygosity=Heterozygous (PubMed=10777490; PubMed=12812979; PubMed=26184184).
  

DOI=10.5962/bhl.title.4090
Lewis Lemon Coriell, Arthur E. Greene;
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977)

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=9584159; DOI=10.1128/mcb.18.6.3182; PMCID=PMC108900
Vesna Rapic-Otrin, Isao Kuraoka, Tiziana Nardo, Mary McLenigan, Andre P.M. Eker, Miria Stefanini, Arthur S. Levine, Richard Dean Wood;
Relationship of the xeroderma pigmentosum group E DNA repair defect to the chromatin and DNA binding proteins UV-DDB and replication protein A.
Mol. Cell. Biol. 18:3182-3190(1998)

PubMed=10655550; DOI=10.1093/hmg/9.3.403
Michel M. Ouellette, Lisa D. McDaniel, Woodring Erik Wright, Jerry W. Shay, Roger A. Schultz;
The establishment of telomerase-immortalized cell lines representing human chromosome instability syndromes.
Hum. Mol. Genet. 9:403-411(2000)

PubMed=10777490; DOI=10.1074/jbc.M000960200
Anne F. Nichols, Toshiki Itoh, Jay A. Graham, Wei Liu, Masaru Yamaizumi, Stuart M. Linn;
Human damage-specific DNA-binding protein p48. Characterization of XPE mutations and regulation following UV irradiation.
J. Biol. Chem. 275:21422-21428(2000)

PubMed=12812979; DOI=10.1093/hmg/ddg174
Vesna Rapic-Otrin, Valentina Navazza, Tiziana Nardo, Elena Botta, Mary McLenigan, Dawn C. Bisi, Arthur S. Levine, Miria Stefanini;
True XP group E patients have a defective UV-damaged DNA binding protein complex and mutations in DDB2 which reveal the functional domains of its p48 product.
Hum. Mol. Genet. 12:1507-1522(2003)

PubMed=26184184; DOI=10.3390/ijms160715985; PMCID=PMC4519934
Nikola A. Bowden, Natalie J. Beveridge, Katie A. Ashton, Katherine J. Baines, Rodney James Scott;
Understanding xeroderma pigmentosum complementation groups using gene expression profiling after UV-light exposure.
Int. J. Mol. Sci. 16:15985-15996(2015)