Varaico: Literature-Extracted Genetic Variants

Gene:ACOX2
Variant:p.R225Q
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ACOX2

NM_003500.4:p.R225Q

Associated Papers

Whole-exome sequencing for genetic diagnosis of idiopathic liver injury in children.

Lülecioğlu AA et al.

Journal of Cellular and Molecular Medicine, 2024

Beneficial effect of ursodeoxycholic acid in patients with acyl-CoA oxidase 2 (ACOX2) deficiency-associated hypertransaminasemia.

Alonso-Peña M et al.

Hepatology (baltimore, Md.), 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."