NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy

Published 2015 View Full Article

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Title
NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy
Authors
Keywords
Deglycosylation, Intellectual disability, Neuromotor defect, NGLY1, Whole-exome sequencing
Journal
European Journal of Medical Genetics
Volume 58, Issue 1, Pages 39-43
Publisher
Elsevier BV
Online
2014-09-09
DOI
10.1016/j.ejmg.2014.08.008

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