• Mutation; HGNC; HGNC:3588; FANCG; Simple; c.307+1G>C (IVS3+1G>C); ClinVar=VCV000006714; Zygosity=Homozygous; Note=Splice donor mutation (DOI=10.1007/0-387-33776-8_11).
  

PubMed=1180926; DOI=10.1016/0006-291x(75)90551-3
Yoshisada Fujiwara, Mariko Tatsumi;
Repair of mitomycin C damage to DNA in mammalian cells and its impairment in Fanconi's anemia cells.
Biochem. Biophys. Res. Commun. 66:592-598(1975)

PubMed=7300843; DOI=10.1016/0027-5107(81)90123-8
Yoshio Kano, Yoshisada Fujiwara;
Roles of DNA interstrand crosslinking and its repair in the induction of sister-chromatid exchange and a higher induction in Fanconi's anemia cells.
Mutat. Res. 81:365-375(1981)

DOI=10.1007/0-387-33776-8_11
Akira Tachibana;
Mutational analyses of Fanconi anemia genes in Japanese patients.
(In book chapter) Molecular mechanisms of Fanconi anemia; Ahmad, Shamim I. & Kirk, Sandra H. (eds.); pp.103-114; Springer; New York; USA (2006)

PubMed=25877200; DOI=10.1038/nature14397
Ma-Mie Yu, Suresh K. Selvaraj, May M.Y. Liang-Chu, Sahar Aghajani, Matthew Busse, Jean Yuan, Genee Lee, Franklin V. Peale, Christiaan Klijn, Richard Bourgon, Joshua S. Kaminker, Richard M. Neve;
A resource for cell line authentication, annotation and quality control.
Nature 520:307-311(2015)