Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia

Title
Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia
Authors
Keywords
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Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 98, Issue 4, Pages 782-788
Publisher
Elsevier BV
Online
2016-04-02
DOI
10.1016/j.ajhg.2016.03.016

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