Varaico: Literature-Extracted Genetic Variants

Gene:AGBL5
Variant:p.W592*
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AGBL5

NM_021831.6:p.W592*

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

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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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."