ArticleAmerican journal of human genetics2018
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
Heather E Olson et al.PubMed ↗Full text ↗Publisher ↗
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