Impaired glutamylation of RPGR(ORF15) underlies the cone-dominated phenotype associated with truncating distal ORF15 variants. Cehajic-Kapetanovic J, Martinez-Fernandez de la Camara C, Birtel J, Rehman S, et al. Proc Natl Acad Sci U S A 2022;119:e2208707119.

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Cehajic-Kapetanovic J, Martinez-Fernandez de la Camara C, Birtel J, Rehman S, et al. Impaired glutamylation of RPGR(ORF15) underlies the cone-dominated phenotype associated with truncating distal ORF15 variants. Proc Natl Acad Sci U S A 2022;119:e2208707119.
PMID: 36445968