Identification of genetic etiology of CAMRQ2
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https://www.omicsdi.org/dataset/ega/EGAS00000000099
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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.EGA study EGAS00000000099
创建时间：
2014-09-25
