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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EHHADH

Variant:p.P89S

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EHHADH

NM_001966.4:p.P89S

hg38:chr3:185235376 G>A

Associated Papers

Strategies for correcting very long chain acyl-CoA dehydrogenase deficiency.

Tenopoulou M et al.

The Journal of Biological Chemistry, 2015

25737446 (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."