Pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency in zebrafish results in fatal seizures and metabolic aberrationsHeterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesityEffective CRISPR/Cas9-based nucleotide editing in zebrafish to model human genetic cardiovascular disordersIdentification of human D lactate dehydrogenase deficiency
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Sanne M C Savelberg