Varaico: Literature-Extracted Genetic Variants

Gene:ECHS1
Variant:p.K284fs
Back to variants list

ECHS1

NM_004092.4:p.K284fs

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."