Varaico: Literature-Extracted Genetic Variants

Gene:ETFDH
Variant:p.R452K
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ETFDH

NM_004453.4:p.R452K

Associated Papers

Multiple Acyl-Coenzyme A Dehydrogenase Deficiency Is Associated with Sertraline Use - Is There an Acquired Form?

Sunebo S et al.

Annals of Neurology, 2024

A New Integrated Newborn Screening Workflow Can Provide a Shortcut to Differential Diagnosis and Confirmation of Inherited Metabolic Diseases.

Ko JM et al.

Yonsei Medical Journal, 2018

Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency.

Olsen RK et al.

Human Mutation, 2003

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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."