Impaired glutamylation of RPGRORF15 underlies the cone-dominated phenotype associated with truncating distal ORF15 variants
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DOI: 10.1073/pnas.2208707119
Abstract: Significance Retinitis pigmentosa GTPase regulator (RPGR) disease variants lead to considerable phenotypic heterogeneity in terms of relative involvement of rod and cone photoreceptors. We have identified a clear progressive shift from rod- to cone-dominating phenotypes… read more here.
Keywords: dominated phenotype; cone dominated; glutamylation; truncating distal ... See more keywords