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.

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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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