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A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy

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Description scientific article published on 15 August 2020
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author: Carlos Casasnovas  Agatha Schluter  Edgard Verdura  Gerald Le Gac  Montserrat Ruiz  Aurora Pujol  Stéphane Fourcade  Agusti Rodríguez-Palmero 

Publication date August 15, 2020
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