Varaico: Literature-Extracted Genetic Variants

Gene:ECHS1
Variant:p.R25H
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ECHS1

NM_004092.4:p.R25H

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

Clinical, biochemical and metabolic characterization of patients with short-chain enoyl-CoA hydratase(ECHS1) deficiency: two case reports and the review of the literature.

Yang H et al.

Bmc Pediatrics, 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."