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Reply: A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia; and Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family

Detalles Bibliográficos
Autores principales: Eidhof, Ilse, Baets, Jonathan, Kamsteeg, Erik-Jan, Schenck, Annette, van de Warrenburg, Bart P
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7571496/
https://www.ncbi.nlm.nih.gov/pubmed/32428197
http://dx.doi.org/10.1093/brain/awaa122