De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features
Xueyang Pan(Baylor College of Medicine), Hugo J. Bellen(Baylor College of Medicine)
Cited by 8
Related Papers
Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans
|PLoS Biology|2012|164
A Mitocentric View of Parkinson's Disease
|Annual Review of Neuroscience|2014|149