KCNA4deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability
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Title
KCNA4deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability
Authors
Keywords
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Journal
JOURNAL OF MEDICAL GENETICS
Volume 53, Issue 11, Pages 786-792
Publisher
BMJ
Online
2016-09-01
DOI
10.1136/jmedgenet-2015-103637
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- (2010) Lisenka E L M Vissers et al. NATURE GENETICS
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