Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome
scientific article published on October 16, 2014
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author: Eric Boerwinkle, James R. Lupski, Richard Gibbs, Donna Muzny, Christine M. Eng, Yaping Yang, Klaas J. Wierenga, Seema R Lalani, Wenmiao Zhu, Angus Wilfong, Gabriela Purcarin, Zhiyv Niu, Christian P Schaaf, Chester W Brown, Mahshid S Azamian
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