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
CCP5 and CCP6 retain CP110 and negatively regulate ciliogenesis.
Wang Y et al.
Bmc Biology, 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
Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa.
Astuti GD et al.
Investigative Ophthalmology & Visual Science, 2016
Exome Sequencing Reveals AGBL5 as Novel Candidate Gene and Additional Variants for Retinitis Pigmentosa in Five Turkish Families.
Kastner S et al.
Investigative Ophthalmology & Visual Science, 2015
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