Varaico: Literature-Extracted Genetic Variants

Gene:AGBL5
Variant:p.R303H
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AGBL5

NM_021831.6:p.R303H

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

The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Punta M et al.

Frontiers in Immunology, 2020

33133066 (PubMed )
Supplement: Table_1.xlsx › Germline_SNPs
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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."