Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome
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| Description | scientific article |
| Author/s |
author: Klaas J. Wierenga Eric Boerwinkle Wenmiao Zhu Angus Wilfong Gabriela Purcarin Zhiyv Niu Yaping Yang Richard A Gibbs Christine M. Eng Seema R Lalani James R. Lupski Donna Muzny |
| Publication date | October 16, 2014 |
| Language | English |
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