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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACOX2

Variant:p.S211L

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ACOX2

NM_003500.4:p.S211L

hg38:chr3:58531764 G>A

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

41473252 (PubMed )

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