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A Novel CACNA1A Nonsense Variant [c.4054C>T (p.Arg1352(⁎))] Causing Episodic Ataxia Type 2
Episodic ataxia is a heterogenous group of uncommon neurological disorders characterised by recurrent episodes of vertigo, dysarthria, and ataxia for which a variety of different genetic variations have been implicated. Episodic ataxia type two (EA2) is the most common and also has the largest numbe...
Uloženo v:
| Vydáno v: | Case Rep Neurol Med |
|---|---|
| Hlavní autoři: | , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Hindawi
2018
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5866854/ https://ncbi.nlm.nih.gov/pubmed/29713557 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2018/5802650 |
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