Varaico: Literature-Extracted Genetic Variants

Gene:ETFDH
Variant:p.E277_L278Splc
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ETFDH

NM_004453.4:p.E277_L278Splc

Associated Papers

Clinical Features of Multiple Acyl-CoA Dehydrogenase Deficiency With ETFDH Variants in the First Korean Cases.

Kim YJ et al.

Annals of Laboratory Medicine, 2018

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

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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."