PURA-related severe neonatal hypotonia-seizures...

Name
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
Ontological Reference
MONDO:0014512
Name
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
Ontological Reference
MONDO:0014512
ClinVar Variants
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