Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

Title
Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies
Authors
Keywords
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Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 96, Issue 5, Pages 816-825
Publisher
Elsevier BV
Online
2015-04-11
DOI
10.1016/j.ajhg.2015.03.001

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