Biallelic Mutations in TBCD , Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy

Title
Biallelic Mutations in TBCD , Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy
Authors
Keywords
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Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 99, Issue 4, Pages 962-973
Publisher
Elsevier BV
Online
2016-09-23
DOI
10.1016/j.ajhg.2016.08.003

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