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Emerging evidence of coding mutations in the ubiquitin–proteasome system associated with cerebellar ataxias
Cerebellar ataxia (CA) is a disorder associated with impairments in balance, coordination, and gait caused by degeneration of the cerebellum. The mutations associated with CA affect functionally diverse genes; furthermore, the underlying genetic basis of a given CA is unknown in many patients. Exome...
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| Опубликовано в: : | Hum Genome Var |
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| Главные авторы: | , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Nature Publishing Group
2014
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4785523/ https://ncbi.nlm.nih.gov/pubmed/27081508 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2014.18 |
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