Exome Sequencing of Spanish Patients with rare genetic diseases.
|Study ID||Alternative Stable ID||Type|
Study Datasets 1 dataset.
Whole Exome sequencing of a set of Spanish patients suffering rare genetic diseases. The set consists of 3 patients, two were diagnosed with Aniridia (ANI-0006 and ANI-0023) and another one was diagnosed with Retinitis Pigmentosa (RP-0247).