Associated Papers
Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss.
Karali M et al.
European Journal of Human Genetics : Ejhg, 2025
Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort.
Lin S et al.
Ophthalmology. Retina, 2024
38219857 (PubMed )
Supplement: mmc1.pdf
Mutations in AGBL5 associated with Retinitis pigmentosa.
Paredes DI et al.
Ophthalmic Genetics, 2024
CCP5 and CCP6 retain CP110 and negatively regulate ciliogenesis.
Wang Y et al.
Bmc Biology, 2023
Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa.
Astuti GD et al.
Investigative Ophthalmology & Visual Science, 2016
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