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Heterozygous Missense Pathogenic Variants Within the Second Spectrin Repeat of SPTBN2 Lead to Infantile-Onset Cerebellar Ataxia

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Description scientific article published on 16 October 2019
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author: Nassima Addour-Boudrahem  Joël Lafond-Lapalme  Andrea Accogli  Guy A. Rouleau  Myriam Srour 

Publication date October 16, 2019
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