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Intragenic DOK7 deletion detected by whole-genome sequencing in congenital myasthenic syndromes

Lookup NU author(s): Dr Yoshiteru Azuma, Dr Ana TopfORCiD, Dr Teresinha Evangelista, Dr Paulo Lorenzoni, Dr Andreas Roos, Professor Hanns Lochmuller

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Author(s): Azuma Y, Töpf A, Evangelista T, Lorenzoni PJ, Roos A, Viana P, Inagaki H, Kurahashi H, Lochmüller H

Publication type: Article

Publication status: Published

Journal: Neurology: Genetics

Year: 2017

Volume: 3

Issue: 3

Print publication date: 01/06/2017

Online publication date: 03/05/2017

Acceptance date: 14/03/2017

Date deposited: 07/06/2017

ISSN (electronic): 2376-7839

Publisher: Wolters Kluwer

URL: https://doi.org/10.1212/NXG.0000000000000152

DOI: 10.1212/NXG.0000000000000152

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