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
Retinitis Pigmentosa: Novel Therapeutic Targets and Drug Development.
Wu KY et al.
Pharmaceutics, 2023
The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies.
Abu Diab A et al.
Acta Ophthalmologica, 2019
Establishing the involvement of the novel gene AGBL5 in retinitis pigmentosa by whole genome sequencing.
Branham K et al.
Physiological Genomics, 2016
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