• Mutation; HGNC; HGNC:3582; FANCA; Simple; p.Phe1263del (c.3788_3790delTCT); ClinVar=VCV000041003; Zygosity=Homozygous (PubMed=10468606; PubMed=10094191).
  

PubMed=10094191; DOI=10.1038/sj.ejhg.5200248
Mario Wijker, Neil V. Morgan, Sabine Herterich, Carola G.M. van Berkel, Alex J. Tipping, Hans-Joachim Gross, Johan J.P. Gille, Gerard Pals, Maria Savino, Cigdem Altay, Subburaman Mohan ...Show all 25 authors... , Inderjeet Dokal, Jamie Durrell Cavenagh, Judith Marsh, Margreet van Weel, Juan J. Ortega, Dezso Schuler, Elena Samochatova, Marek Witold Karwacki, Albert Nyemrlsz Bekassy, Manuel Abecasis, Wolfram Ebell, Mei Lan Kwee, Thomy J.L. de Ravel, Christopher George Mathew; Show fewer authors
Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene.
Eur. J. Hum. Genet. 7:52-59(1999)

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)