• Mutation; HGNC; HGNC:3588; FANCG; Simple; p.Glu105Ter (c.313G>T); ClinVar=VCV000006712; Zygosity=Heterozygous (PubMed=9806548).
  
• Mutation; HGNC; HGNC:3588; FANCG; Simple; p.Glu395Trpfs*5 (c.1183_1192delTGAGGTGTTTTinsC) (1184-1194del); ClinVar=VCV000041224; Zygosity=Heterozygous (PubMed=9806548).
  

PubMed=9806548; DOI=10.1038/3093
de Winter J.P., Waisfisz Q., Rooimans M.A., van Berkel C.G.M., Bosnoyan-Collins L., Alon N., Carreau M., Bender O., Demuth I., Schindler D., Pronk J.C., Arwert F., Hoehn H., Digweed M., Buchwald M., Joenje H.
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
Waisfisz Q., de Winter J.P., Kruyt F.A.E., de Groot J., van der Weel L., Dijkmans L.M., Zhi Y., Arwert F., Scheper R.J., Youssoufian H., Hoatlin M.E., Joenje H.
A physical complex of the Fanconi anemia proteins FANCG/XRCC9 and FANCA.
Proc. Natl. Acad. Sci. U.S.A. 96:10320-10325(1999)

PubMed=11050007; DOI=10.1182/blood.V96.9.3224
Garcia-Higuera I., Kuang Y., Denham J., D'Andrea A.D.
The Fanconi anemia proteins FANCA and FANCG stabilize each other and promote the nuclear accumulation of the Fanconi anemia complex.
Blood 96:3224-3230(2000)

PubMed=16166284; DOI=10.1158/0008-5472.CAN-04-1198
Araten D.J., Golde D.W., Zhang R.H., Thaler H.T., Gargiulo L., Notaro R., Luzzatto L.
A quantitative measurement of the human somatic mutation rate.
Cancer Res. 65:8111-8117(2005)