Associated Papers
Retinal Disease Variability in Female Carriers of RPGR Variants Associated with Retinitis Pigmentosa: Clinical and Genetic Parameters.
Gocuk SA et al.
Genes, 2025
40004550 (PubMed )
Supplement: genes-16-00221-s001.zip › Supplementary_Table_S2_detailed_demographics_Clean_Tracked.pdf
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
Loss of RPGR glutamylation underlies the pathogenic mechanism of retinal dystrophy caused by TTLL5 mutations.
Sun X et al.
Proceedings of the National Academy of Sciences of the United States of America, 2016
RPGR ORF15 genotype and clinical variability of retinal degeneration in an Australian population.
Ruddle JB et al.
The British Journal of Ophthalmology, 2009
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