• Mutation; HGNC; HGNC:3584; FANCC; Simple; p.Asp23Ilefs*23 (c.67delG) (322delG); ClinVar=VCV000012049; Zygosity=Homozygous (PubMed=10468606).
  

PubMed=7662964; DOI=10.1182/blood.V86.6.2156.bloodjournal8662156
Joenje H., Lo ten Foe J.R., Oostra A.B., van Berkel C.G.M., Rooimans M.A., Schroeder-Kurth T.M., Wegner R.-D., Gille J.J.P., Buchwald M., Arwert F.
Classification of Fanconi anemia patients by complementation analysis: evidence for a fifth genetic subtype.
Blood 86:2156-2160(1995)

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)