P.152 The novel ANXA11 variant p.Asp40Ile in a childhood-onset oculopharyngeal muscular dystrophy shows the pathogenic relevance of Asp40 in ANXA11 disorders

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Bibliographic Details
Published in:Neuromuscular disorders : NMD 2022-10, Vol.32, p.S109
Main Authors: Natera-de Benito, D., Olival, J., Garcia-Cabau, C., Codina, A., Roldan, M., Expósito-Escudero, J., Batlle, C., Carrera-García, L., Ortez, C., Jou, C., Salvatella, X., Palau, F., Nascimento, A., Hoenicka, J.
Format: Article
Language:English
Online Access:Get full text
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ISSN:0960-8966
DOI:10.1016/j.nmd.2022.07.280