Varaico: Literature-Extracted Genetic Variants

Gene:ACOX2
Variant:p.T154fs
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ACOX2

NM_003500.4:p.T154fs

Associated Papers

Treatment of Inborn Errors by Product Replacement: The Example of Inborn Errors of Bile Acid Synthesis.

Clayton PT et al.

Journal of Inherited Metabolic Disease, 2025

A novel case of ACOX2 deficiency leads to recognition of a third human peroxisomal acyl-CoA oxidase.

Ferdinandusse S et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2018

Exome Pool-Seq in neurodevelopmental disorders.

Popp B et al.

European Journal of Human Genetics : Ejhg, 2017

29158550 (PubMed )
Supplement: 41431_2017_22_MOESM7_ESM.xlsx › Cand_LOF_inhAR
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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."