Deep intronic homozygous variation in PSMC3 causes a syndromic neurosensory disorder combining deafness and cataract
|Study ID||Alternative Stable ID||Type|
Study Datasets 1 dataset.
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Disease: Severe congenital deafness, early onset cataracts and various neurological features Family: 3 affected individuals originated from the same small village (Amarat) in the Kayseri region of Turkey and belonging to the same large extended consanguineous family. Dataset: 5 BAM files. Whole-genome sequencing (WGS) was applied to the three affected individuals (II.2, II.4 and II.7) and two healthy individuals (II.1 and II.3).
|Illumina HiSeq 2000||5|