Study
Identification of genetic etiology of CAMRQ2
| Study ID | Alternative Stable ID | Type |
|---|---|---|
| EGAS00000000099 | Genotype |
Study Description
We aimed to identify genetic etiology of cerebellar ataxia, mental retardation, and disequilibrium syndrome (CAMRQ). Targeted sequencing of the entire CAMRQ2 locus, 7.1 Mb interval on chromosome 17p13, in three affected individuals and two obligate carriers uncovered the mutation associated with CAMRQ2.
Study Datasets 1 dataset.
Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data
| Dataset ID | Description | Technology | Samples |
|---|---|---|---|
| EGAD00010000130 |
Cerebellar ataxia, mental retardation, and disequilibrium syndrome (CAMRQ) samples
|
Illumina,Illumina 300 Duo V2 - Bead Studio | 2 |
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