Varaico: Literature-Extracted Genetic Variants

Gene:ACOX1
Variant:p.G231C
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ACOX1

NM_004035.7:p.G231C

Associated Papers

Findings from the individualized management of a patient with Acyl-CoA Oxidase-1 (ACOX1) deficiency: A bedside-to-bench-to-bedside strategy.

Moreau C et al.

Molecular Genetics and Metabolism, 2024

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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."