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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ETFDH

Variant:p.L496P

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ETFDH

NM_004453.4:p.L496P

hg38:chr4:158706647 T>C

Associated Papers

Management of Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in Pregnancy.

Shear MA et al.

Metabolites, 2025

40710532 (PubMed )

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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."