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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EHHADH

Variant:p.L377S

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EHHADH

NM_001966.4:p.L377S

hg38:chr3:185193268 A>G

Associated Papers

Cardiologic evaluation of Turkish mitochondrial fatty acid oxidation disorders.

Balci MC et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2022

36331231 (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."