Varaico: Literature-Extracted Genetic Variants

Gene:ETFA
Variant:p.V168I
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ETFA

NM_000126.4:p.V168I

Associated Papers

Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations.

Pitt JJ et al.

Journal of Inherited Metabolic Disease, 2015

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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."