Varaico: Literature-Extracted Genetic Variants

Gene:ACOX2
Variant:p.L456_Q459del4
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ACOX2

NM_003500.4:p.L456_Q459del4

Associated Papers

Screening for Mutations Causing ACOX2 Deficiency-associated Hypertransaminasemia in Patients with Cryptogenic Liver Injury.

Herraez E et al.

Journal of Clinical and Translational Hepatology, 2025

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."