FV 697. Biallelic Mutations in SCYL1 Cause CALFAN-Syndrome (Cholestasis, Acute Liver Failure, and Neurodegeneration), A Congenital Disorder of Intracellular Trafficking with a Variable Neurological Phenotype
Abstracts of the 44th Annual Meeting of the Society for NeuropediatricsNeuropediatrics(2018)
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