Whole Exome Sequencing of a Chinese Cataract Girl

Dataset ID Technology Samples
EGAD00001008267 Illumina HiSeq 2000 1

Dataset Description

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.

Data Use Conditions


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Label Code Version Modifier
publication required DUO:0000019 2019-01-07
health or medical or biomedical research DUO:0000006 2019-01-07