IIS-Fundacion Jimenez Diaz Data Access Committee

Request Access

Dataset ID	Description	Technology	Samples
EGAD00001005746	Whole Exome sequencing of a set of Spanish patients suffering rare genetic diseases. The set consists of 4 patients, one was diagnosed with Retinitis Pigmentosa (RP-1629), another one was diagnosed with Macular Dystrophy (MD-0235) and two were diagnosed with Leber's Congenital Amaurosis (LCA-0081 and LCA-0103).	unspecified	4