36451697-5a27-4669-a3d9-68c57de790dd - samples
收藏NIAID Data Ecosystem2026-03-13 收录
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资源简介：
Whole exome sequencing of a Chinese girl with congenital cataract. The dataset contains one sample with two fastq files. The novel PAX6 mutation (c.221G>A) is associated with congenital cataract, and the WFS1 mutation (c.2070_2079del) interactively aggravates this process.EGA dataset EGAD00001008267
创建时间：
2021-10-20
