• Mutation; HGNC; HGNC:2718; DDB2; Simple; p.Asn349del (c.1045_1047del); ClinVar=VCV002137064; Zygosity=Heterozygous (from autologous cell line GM01389).
  
• Mutation; HGNC; HGNC:2718; DDB2; Simple; p.Leu350Pro (c.1049T>C); ClinVar=VCV002137065; Zygosity=Heterozygous (from autologous cell line GM01389).
  

DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
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
Mulivor R.A., Suchy S.F.
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
Rapic-Otrin V., Kuraoka I., Nardo T., McLenigan M., Eker A.P.M., Stefanini M., Levine A.S., Wood R.D.
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=12812979; DOI=10.1093/hmg/ddg174
Rapic-Otrin V., Navazza V., Nardo T., Botta E., McLenigan M., Bisi D.C., Levine A.S., Stefanini M.
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)