d411df7c-74ee-45ad-a43c-482eb0cab887 - samples
收藏NIAID Data Ecosystem2026-03-11 收录
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资源简介：
Disease: Severe congenital deafness, early onset cataracts and various neurological features Family: 3 affected individuals originated from the same small village (Amarat) in the Kayseri region of Turkey and belonging to the same large extended consanguineous family. Dataset: 5 BAM files. Whole-genome sequencing (WGS) was applied to the three affected individuals (II.2, II.4 and II.7) and two healthy individuals (II.1 and II.3).EGA dataset EGAD00001005417
创建时间：
2019-10-09
