Varaico: Literature-Extracted Genetic Variants

Gene:OXR1
Variant:p.K78R
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OXR1

NM_001198533.2:p.K78R

Associated Papers

Neuroinflammation and Lysosomal Abnormalities Characterise the Essential Role for Oxidation Resistance 1 in the Developing and Adult Cerebellum.

Bucknor EMV et al.

Antioxidants (basel, Switzerland), 2024

A novel recessive mutation in OXR1 is identified in patient with hearing loss recapitulated by the knockdown zebrafish.

Li Y et al.

Human Molecular Genetics, 2023

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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."