A case of severe autosomal recessive spinocerebellar ataxia...

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A case of severe autosomal recessive spinocerebellar ataxia type 18 with a novel nonsense variant in GRID2

Hetzelt, Katalin L.M.L., Kraus, Cornelia, Kusnik, Stefan, Thiel, Christian, Uebe, Steffen, Ekici, Arif B., Trollmann, Regina, Reis, André, Zweier, Christiane
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Journal:
European Journal of Medical Genetics
DOI:
10.1016/j.ejmg.2020.103998
Date:
July, 2020
File:
PDF, 1.22 MB
2020
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