• Mutation; HGNC; HGNC:3587; FANCF; Simple; p.Gln6Ter (c.16C>T); ClinVar=VCV000006342; Zygosity=Heterozygous (Coriell=GM16757).
  
• Mutation; HGNC; HGNC:3587; FANCF; Simple; p.Gly120Profs*17 (c.351_397del47) (349_395del); ClinVar=VCV000006341; Zygosity=Heterozygous (Coriell=GM16757).
  

PubMed=11001585; DOI=10.1016/S0002-9297(07)62959-0; PMCID=PMC1288571
de Winter J.P., Leveille F., van Berkel C.G.M., Rooimans M.A., van der Weel L., Steltenpool J., Demuth I., Morgan N.V., Alon N., Bosnoyan-Collins L., Lightfoot J., Leegwater P.A.J., Waisfisz Q., Komatsu K., Arwert F., Pronk J.C., Mathew C.G., Digweed M., Buchwald M., Joenje H.
Isolation of a cDNA representing the Fanconi anemia complementation group E gene.
Am. J. Hum. Genet. 67:1306-1308(2000)

PubMed=12065746; DOI=10.1126/science.1073834
Howlett N.G., Taniguchi T., Olson S., Cox B., Waisfisz Q., de Die-Smulders C.E.M., Persky N., Grompe M., Joenje H., Pals G., Ikeda H., Fox E.A., D'Andrea A.D.
Biallelic inactivation of BRCA2 in Fanconi anemia.
Science 297:606-609(2002)