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Publication : Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.

First Author  Morimoto M Year  2018
Journal  Am J Hum Genet Volume  103
Issue  5 Pages  794-807
PubMed ID  30401460 Mgi Id 
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