Exome Sequencing of Spanish Patients with rare genetic diseases.

Dataset ID Technology Samples
EGAD00001005498 unspecified 3

Dataset Description

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).

Who controls access to this dataset

For each dataset that requires controlled access, there is a corresponding Data Access Committee (DAC) who determine access permissions. Access to actual data files is not managed by the EGA. If you need to request access to this data set, please contact:

IIS - Fundacion Jimenez Diaz Data Access Committee
Contact person: Carmen Ayuso
Email: cayuso [at] fjd [dot] es
More details: EGAC00001001392


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