Associated Papers
Retinal Pigment Epitheliopathy due to Sub-Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11-Related Phenotype.
Stephenson KAJ et al.
Clinical Genetics, 2025
Alternative Splicing Dysregulation in Retinitis Pigmentosa: Pathogenic Mechanisms and Therapeutic Opportunities.
Jiang Y et al.
Biomolecules, 2025
Splicing defects in rare diseases: transcriptomics and machine learning strategies towards genetic diagnosis.
Wang R et al.
Briefings in Bioinformatics, 2023
A new phenotype of syndromic retinitis pigmentosa with myopathy is caused by mutations in retinol dehydrogenase 11.
Liu YD et al.
Clinical Genetics, 2022
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