De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia

Published 2019 View Full Article

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Title
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia
Authors
Keywords
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Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 105, Issue 2, Pages 283-301
Publisher
Elsevier BV
Online
2019-07-25
DOI
10.1016/j.ajhg.2019.06.016

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