Whole exome sequencing of Congenital Cataract
收藏NIAID Data Ecosystem2026-03-13 收录
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资源简介：
Whole exome sequencing to identify potentially relevant mutations of congenital cataract in a Chinese girl. The novel PAX6 mutation (c.221G>A) is associated with congenital cataract, and the WFS1 mutation (c.2070_2079del) interactively aggravates this process.EGA study EGAS00001005673
创建时间：
2021-10-20
