• 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
Johan P. de Winter, France Leveille, Carola G.M. van Berkel, Martin A. Rooimans, Laura van der Weel, Jurgen Steltenpool, Ilja Demuth, Neil V. Morgan, Noa Alon, Lucine Bosnoyan-Collins, Jeff Lightfoot ...Show all 20 authors... , Peter A.J. Leegwater, Quinten Waisfisz, Kenshi Komatsu, Fre Arwert, Jan C. Pronk, Christopher G. Mathew, Martin Digweed, Manuel Buchwald, Hans Joenje; Show fewer authors
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
Niall G. Howlett, Toshiyasu Taniguchi, Susan Olson, Barbara Cox, Quinten Waisfisz, Christine E.M. de Die-Smulders, Nicole Persky, Markus Grompe, Hans Joenje, Gerard Pals, Hideyuki Ikeda ...Show all 13 authors... , Edward A. Fox, Alan David D'Andrea; Show fewer authors
Biallelic inactivation of BRCA2 in Fanconi anemia.
Science 297:606-609(2002)