Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome

标题
Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome
作者
关键词
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出版物
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 95, Issue 5, Pages 579-583
出版商
Elsevier BV
发表日期
2014-10-16
DOI
10.1016/j.ajhg.2014.09.014

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