Varaico: Literature-Extracted Genetic Variants

Gene:ECH1
Variant:p.R283G
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ECH1

NM_001398.3:p.R283G

Associated Papers

Differentiation of neonatal and infantile onset ECHS1 deficiency using SCEH enzyme activity and plasma acylcarnitine analysis.

D'Annibale O et al.

Molecular Genetics and Metabolism, 2025

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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."