Varaico: Literature-Extracted Genetic Variants

Gene:ETFDH
Variant:p.K500_D501del1
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ETFDH

NM_004453.4:p.K500_D501del1

Associated Papers

Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency.

Laforêt P et al.

Neuromuscular Disorders : Nmd, 2009

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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."