Exome Sequencing of Spanish Patients with rare genetic diseases.
收藏NIAID Data Ecosystem2026-03-11 收录
下载链接：
https://www.omicsdi.org/dataset/ega/EGAS00001004028
下载链接
链接失效反馈官方服务：
资源简介：
Whole exome sequencing of Spanish patients suffering from a rare genetic disease. The study was carried out in 2013 as a part of a public call from CNAG (Centro Nacional de Análisis Genómico), where data of eight spanish families were sent to analyse. The study concluded with three solved cases: two of aniridia and one syndromic RP.EGA study EGAS00001004028
创建时间：
2019-11-26
