IIS-Fundacion Jimenez Diaz Data Access Committee

Dac ID Contact Person Email Access Information
EGAC00001001418 Carmen Ayuso cayuso [at] fjd [dot] es No additional information is available

This DAC controls 1 dataset:

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