• Mutation; HGNC; HGNC:3588; FANCG; Simple; p.Glu105Ter (c.313G>T); ClinVar=VCV000006712; Zygosity=Heterozygous (PubMed=9806548).
  
• Mutation; HGNC; HGNC:3588; FANCG; Simple; c.1480+1G>C (IVS11+1G>C); ClinVar=VCV000006717; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=9806548).
  

PubMed=9806548; DOI=10.1038/3093
Johan P. de Winter, Quinten Waisfisz, Martin A. Rooimans, Carola G.M. van Berkel, Lucine Bosnoyan-Collins, Noa Alon, Madeleine Carreau, Olaf Bender, Ilja Demuth, Detlev Schindler, Jan C. Pronk ...Show all 16 authors... , Fre Arwert, Holger Hoehn, Martin Digweed, Manuel Buchwald, Hans Joenje; Show fewer authors
The Fanconi anaemia group G gene FANCG is identical with XRCC9.
Nat. Genet. 20:281-283(1998)

PubMed=10468606; DOI=10.1073/pnas.96.18.10320; PMCID=PMC17886
Quinten Waisfisz, Johan P. de Winter, Frank A.E. Kruyt, Jan de Groot, Laura van der Weel, Lonneke M. Dijkmans, Yu Zhi, Fre Arwert, Riekeld J. Scheper, Hagop Youssoufian, Maureen E. Hoatlin, Hans Joenje;
A physical complex of the Fanconi anemia proteins FANCG/XRCC9 and FANCA.
Proc. Natl. Acad. Sci. U.S.A. 96:10320-10325(1999)