Varaico: Literature-Extracted Genetic Variants

Gene:ETFDH
Variant:p.H169Y
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ETFDH

NM_004453.4:p.H169Y

Associated Papers

Outcomes of mitochondrial long chain fatty acid oxidation and carnitine defects from a single center metabolic genetics clinic.

Ambrose A et al.

Orphanet Journal of Rare Diseases, 2022

36109795 (PubMed )
Supplement: 13023_2022_2512_MOESM1_ESM.docx
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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."