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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...

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Detalhes bibliográficos
Publicado no:Biomedicines
Main Authors: Maksemous, Neven, Sutherland, Heidi G., Smith, Robert A., Haupt, Larisa M., Griffiths, Lyn R.
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7277596/
https://ncbi.nlm.nih.gov/pubmed/32466254
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/biomedicines8050134
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