Varaico: Literature-Extracted Genetic Variants

Gene:ETFDH
Variant:p.L179S
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ETFDH

NM_004453.4:p.L179S

Associated Papers

[Multiple acyl-CoA dehydrogenase deficiency/glutaric aciduria type 2: difficult diagnosis, easy to treat].

Rabenstein M et al.

Der Nervenarzt, 2020

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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."