Varaico: Literature-Extracted Genetic Variants

Gene:ETFDH
Variant:p.L550R
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ETFDH

NM_004453.4:p.L550R

Associated Papers

Hepatic Presentation of Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Case Report and Systematic Review.

Siano MA et al.

Frontiers in Pediatrics, 2021

Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene Mutations.

Angelini C et al.

Jimd Reports, 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."