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Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy
Bauwens, Miriam, Storch, Stephan, Weisschuh, Nicole, Ceuterick‐de Groote, Chantal, De Rycke, Riet, Brecht, Guillemyn, Sarah, De Jaegere, Coppieters, Frauke, Van Coster, Rudy, Leroy, Bart P., De Baere,Langue:
english
Journal:
Clinical Genetics
DOI:
10.1111/cge.13673
Date:
November, 2019
Fichier:
PDF, 2.48 MB
english, 2019