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Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome

Lookup NU author(s): Dr Hadil Alrohaif, Dr Ana TopfORCiD, Dr Teresinha Evangelista, Professor Hanns Lochmuller

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Author(s): Alrohaif H, Topf A, Evangelista T, Lek M, McArthur D, Lochmuller H

Publication type: Article

Publication status: Published

Journal: Neurology Genetics

Year: 2018

Volume: 4

Issue: 2

Online publication date: 19/03/2018

Acceptance date: 20/02/2018

Date deposited: 26/06/2018

ISSN (electronic): 2376-7839

Publisher: Wolters Kluwer Health, Inc.

URL: https://doi.org/10.1212/NXG.0000000000000226

DOI: 10.1212/NXG.0000000000000226

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