TBCD may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophy
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Title
TBCD may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophy
Authors
Keywords
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Journal
JOURNAL OF HUMAN GENETICS
Volume 62, Issue 4, Pages 473-480
Publisher
Springer Nature
Online
2016-12-08
DOI
10.1038/jhg.2016.149
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Related references
Note: Only part of the references are listed.- Biallelic Mutations in TBCD , Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy
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