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A novel recurrent ARL3 variant c.209G>A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models
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RetiGene, a comprehensive gene atlas for inherited retinal diseases (IRDs)
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Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy
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De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa
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Genetic testing of patients with inherited retinal diseases in the European countries : an international survey by the European Vision Institute