Varaico: Literature-Extracted Genetic Variants

Gene:AGBL5
Variant:p.R125W
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AGBL5

NM_021831.6:p.R125W

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

Unilateral Retinitis Pigmentosa Associated with Possible Ciliopathy and a Novel Mutation.

Milibari D et al.

Clinics and Practice, 2022

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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."