PURA Syndrome and Myotonia.
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[3] Mahshid S. Azamian,et al. Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. , 2014, American journal of human genetics.
[4] Diana Baralle,et al. Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability , 2014, Journal of Medical Genetics.
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