Whole-exome sequencing of Fanconi anemia

We performed whole-exome sequencing of two Fanconi anemia patients without mutation of known FA genes, and identified a novel FA gene FANCT.

1 Dataset 1 Publication

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD00001001302	None	Illumina HiSeq 2500	2

Publications	Citations
Mutations in the gene encoding the E2 conjugating enzyme UBE2T cause Fanconi anemia. Hira A, Yoshida K, Sato K, Okuno Y, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Shimamoto A, Tahara H, Ito E, Kojima S, Kurumizaka H, Ogawa S, Takata M, Yabe H, Yabe M. Am J Hum Genet 96: 2015 1001-1007	78