Varaico: Literature-Extracted Genetic Variants

Gene:EHHADH
Variant:p.L107L
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EHHADH

NM_001966.4:p.L107L

Associated Papers

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms.

Waisbren SE et al.

Molecular Genetics and Metabolism, 0

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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."