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Impaired glutamylation of RPGRORF15 underlies the cone-dominated phenotype associated with truncating distal ORF15 variants.
Cehajic-Kapetanovic J, Martinez-Fernandez de la Camara C, Birtel J, Rehman S, McClements ME, Charbel Issa P, Lotery AJ, MacLaren RE. Cehajic-Kapetanovic J, et al. Among authors: mcclements me. Proc Natl Acad Sci U S A. 2022 Dec 6;119(49):e2208707119. doi: 10.1073/pnas.2208707119. Epub 2022 Nov 29. Proc Natl Acad Sci U S A. 2022. PMID: 36445968 Free PMC article.
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