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RPE65 gene

Discuss publications and research concerning the RPE65 gene.

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Related literature

Personalized Pathogenicity Assessment of RPE65 Gene Mutations Using Patient-Specific hiPSC-Derived Retinal Pigment Epithelium Model.
RPE65
Discovery of rare and novel variants in inherited retinal disorders: Exome sequencing analysis of six Iranian families.
RPE65
Measuring historical variant reclassification in inherited retinal disease and its impact on clinical genetic testing.
RPE65
A Practical Approach to Retinal Dystrophies.
RPE65
The Extraordinary Phenotypic and Genetic Variability of Retinal and Macular Degenerations: The Relevance to Therapeutic Developments.
RPE65
Single Center Experience with Voretigene Neparvovec Gene Augmentation Therapy in RPE65 Mutation-Associated Inherited Retinal Degeneration in a Clinical Setting.
RPE65
Severe Loss of Tritan Color Discrimination in RPE65 Associated Leber Congenital Amaurosis.
RPE65
A Gene Scan Study of RPE65 in Chinese Patients with Leber Congenital Amaurosis.
RPE65
Using patient-specific induced pluripotent stem cells to interrogate the pathogenicity of a novel retinal pigment epithelium-specific 65 kDa cryptic splice site mutation and confirm eligibility for enrollment into a clinical gene augmentation trial.
RPE65
Navigating the current landscape of clinical genetic testing for inherited retinal dystrophies.
RPE65

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