|EGAD00001008267||Illumina HiSeq 2000||1|
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.
Data Use Conditions
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|health or medical or biomedical research||DUO:0000006||2019-01-07|