Varaico: Literature-Extracted Genetic Variants

Gene:ETFDH
Variant:p.L262F
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ETFDH

NM_004453.4:p.L262F

Associated Papers

Long-term use of investigational β-Hydroxybutyrate salts in children with multiple acyl-CoA dehydrogenase or pyruvate dehydrogenase deficiency.

Morris AAM et al.

Molecular Genetics and Metabolism Reports, 2024

Insights into National Laboratory Newborn Screening and Future Prospects.

Mujamammi AH

Medicina (kaunas, Lithuania), 2022

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."