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
Mutations in AGBL5 associated with Retinitis pigmentosa.
Paredes DI et al.
Ophthalmic Genetics, 2024
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M et al.
Scientific Reports, 2022
36460718 (PubMed )
Supplement: 41598_2022_24636_MOESM2_ESM.xlsx › Supplementary_Table_S1
Clinical Spectrum and Genetic Diagnosis of 54 Consecutive Patients Aged 0-25 with Bilateral Cataracts.
Bell S et al.
Genes, 2021
An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.
Cipriani V et al.
Genes, 2020
32340307 (PubMed )
Supplement: genes-11-00460-s001.pdf
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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