Whole exome sequencing of Congenital Cataract
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.
- Type: Other
- Archiver: European Genome-Phenome Archive (EGA)
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|Illumina HiSeq 2000
Novel Mutations of PAX6 and WFS1 Associated With Congenital Cataract in a Chinese Family.
Cureus 15: 2023 e34208