Varaico: Literature-Extracted Genetic Variants

Gene:ECHS1
Variant:p.M1I
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ECHS1

NM_004092.4:p.M1I

Associated Papers

Loss of mitochondrial fatty acid β-oxidation protein short-chain Enoyl-CoA hydratase disrupts oxidative phosphorylation protein complex stability and function.

Burgin H et al.

The Febs Journal, 2023

35962613 (PubMed )
Supplement: FEBS-290-225-s001.xlsx › S5-_Patient_genotypes
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