Badrock et al., 2020 - Analysis of U8 snoRNA Variants in Zebrafish Reveals How Bi-allelic Variants Cause Leukoencephalopathy with Calcifications and Cysts. American journal of human genetics   106(5):694-706 Full text @ Am. J. Hum. Genet.
Human Disease / Model Data (1 Record)
Human Disease Fish Environment Evidence Code
megalencephalic leukoencephalopathy with subcortical cysts
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