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Identification and Functional Characterization of a Novel MTFMT Mutation Associated with Selective Vulnerability of the Visual Pathway and a Mild Neurological Phenotype

Roberta La Piana,Woranontee Weraarpachai,Luis H. Ospina,Martine Tétreault,Jacek Majewski,G. Bruce Pike,Jean‐Claude Décarie,Donatella Tampieri,Bernard Brais,Eric A. Shoubridge

Neurogenetics（2017）

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