Associated Papers
PI4K2A deficiency in an intellectual disability, epilepsy, myoclonus, akathisia syndrome.
Alkhater RA et al.
Annals of Clinical and Translational Neurology, 2018
30564627 (PubMed )
Supplement: ACN3-5-1617-s002.xlsx › SNVs
Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.
Perrault I et al.
Plos One, 2013
Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration.
Friedman JS et al.
American Journal of Human Genetics, 2006
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