Associated Papers
Impaired glutamylation of RPGRORF15 underlies the cone-dominated phenotype associated with truncating distal ORF15 variants.
Cehajic-Kapetanovic J et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
36445968 (PubMed )
Supplement: pnas.2208707119.sapp.pdf
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
Suga A et al.
Human Mutation, 2022
36284460 (PubMed )
Supplement: supplement_1.xlsx › S2-1
Retrospective Natural History Study of RPGR-Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease.
Nassisi M et al.
International Journal of Molecular Sciences, 2022
Identification of a novel RPGR mutation associated with X-linked cone-rod dystrophy in a Chinese family.
Wang Y et al.
Bmc Ophthalmology, 2021
Genotype-Phenotype Analysis of RPGR Variations: Reporting of 62 Chinese Families and a Literature Review.
Yang J et al.
Frontiers in Genetics, 2021
34745198 (PubMed )
Supplement: Table_1.XLSX › Sheet1
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