Varaico: Literature-Extracted Genetic Variants

Gene:ETFDH
Variant:p.P510L
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ETFDH

NM_004453.4:p.P510L

Associated Papers

Diagnostic challenges and outcome of fatty acid oxidation defects in a tertiary care center in Lebanon.

Daher RT et al.

Orphanet Journal of Rare Diseases, 2024

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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."