Varaico: Literature-Extracted Genetic Variants

Gene:OXR1
Variant:p.T442delFs
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OXR1

NM_001198532.1:p.T442delFs

Associated Papers

Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction.

Wang J et al.

American Journal of Human Genetics, 2019

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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."