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Comprehensive Exonic Sequencing of Known Ataxia Genes in Episodic Ataxia
Episodic Ataxias (EAs) are a small group (EA1–EA8) of complex neurological conditions that manifest as incidents of poor balance and coordination. Diagnostic testing cannot always find causative variants for the phenotype, however, and this along with the recently proposed EA type 9 (EA9), suggest t...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
MDPI
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7277596/ https://www.ncbi.nlm.nih.gov/pubmed/32466254 http://dx.doi.org/10.3390/biomedicines8050134 |