A Novel Duplication in ATXN2 as Modifier for Spinocerebellar Ataxia 3 (SCA3) and C9ORF72‐ALS
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DOI: 10.1002/mds.28334
Abstract: The ataxin‐2 (ATXN2) gene contains a cytosine‐adenine‐guanine repeat sequence ranging from 13 to 31 repeats, but when surpassing certain thresholds causes neurodegeneration. Genetic alterations in ATXN2 other than pathological cytosine adenine guanine (CAG) repeats are… read more here.
Keywords: novel duplication; spinocerebellar ataxia; modifier spinocerebellar; duplication atxn2 ... See more keywords