Study

Whole exome sequencing of Congenital Cataract

Study ID Alternative Stable ID Type
EGAS00001005673 Other

Study Description

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.

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
EGAD00001008267
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.
Illumina HiSeq 2000 1

Who archives the data?

There are no publications available