Varaico: Literature-Extracted Genetic Variants

Gene:ECH1
Variant:p.A2V
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ECH1

NM_001398.3:p.A2V

Associated Papers

Valine Restriction Extends Survival in a Drosophila Model of Short-Chain Enoyl-CoA Hydratase 1 (ECHS1) Deficiency.

Mele S et al.

Journal of Inherited Metabolic Disease, 2025

Understanding the role of OXPHOS dysfunction in the pathogenesis of ECHS1 deficiency.

Burgin HJ et al.

Febs Letters, 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."