Varaico: Literature-Extracted Genetic Variants

Gene:ACOX1
Variant:p.R210H
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ACOX1

NM_004035.7:p.R210H

Associated Papers

Effects of hematopoietic stem cell transplantation on acyl-CoA oxidase deficiency: a sibling comparison study.

Wang RY et al.

Journal of Inherited Metabolic Disease, 2014

Adult peroxisomal acyl-coenzyme A oxidase deficiency with cerebellar and brainstem atrophy.

Ferdinandusse S et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2010

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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."