• Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Leu461Val (c.1381C>G); ClinVar=VCV000016779; Zygosity=Heterozygous (PubMed=7585650).
  
• Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Arg683Trp (c.2047C>T); ClinVar=VCV000016793; Zygosity=Heterozygous (PubMed=7585650).
  
• Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Ala717Gly (c.2150C>G) (p.Val716_Arg730del); ClinVar=VCV000134102; Zygosity=Heterozygous; Note=Creates a cryptic donor splice site (PubMed=7585650).
  

PubMed=6947227; DOI=10.1073/pnas.78.10.6236; PMCID=PMC349013
Miskin R., Ben-Ishai R.
Induction of plasminogen activator by UV light in normal and xeroderma pigmentosum fibroblasts.
Proc. Natl. Acad. Sci. U.S.A. 78:6236-6240(1981)

PubMed=4066782; DOI=10.1242/jcs.76.1.115
Johnson R.T., Squires S., Elliott G.C., Koch G.L.E., Rainbow A.J.
Xeroderma pigmentosum D-HeLa hybrids with low and high ultraviolet sensitivity associated with normal and diminished DNA repair ability, respectively.
J. Cell Sci. 76:115-133(1985)

PubMed=3347209; DOI=10.1016/0167-8817(88)90048-x
Squires S., Johnson R.T.
Kinetic analysis of UV-induced incision discriminates between fibroblasts from different xeroderma pigmentosum complementation groups, XPA heterozygotes and normal individuals.
Mutat. Res. 193:181-192(1988)

PubMed=7585650
Takayama K., Salazar E.P., Lehmann A.R., Stefanini M., Thompson L.H., Weber C.A.
Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D.
Cancer Res. 55:5656-5663(1995)