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

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2018

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Wolters Kluwer
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Alrohaif, Hadil, Ana Töpf, Teresinha Evangelista, Monkol Lek, Daniel McArthur, and Hanns Lochmüller. 2018. “Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome.” Neurology: Genetics 4 (2): e226. doi:10.1212/NXG.0000000000000226. http://dx.doi.org/10.1212/NXG.0000000000000226.

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