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A Novel Duplication in ATXN2 as Modifier for Spinocerebellar Ataxia 3 (SCA3) and C9ORF72‐ALS
BACKGROUND: 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 unknown. METHODS/R...
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| Publicado no: | Mov Disord |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley & Sons, Inc.
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7983901/ https://ncbi.nlm.nih.gov/pubmed/33058338 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mds.28334 |
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