Varaico: Literature-Extracted Genetic Variants

Gene:ECHS1
Variant:p.M276T
Back to variants list

ECHS1

NM_004092.4:p.M276T

Associated Papers

Expanding the Clinical and Genetic Spectrum of Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency: Insights From Two Unrelated Chinese Families.

Wu J et al.

Molecular Genetics & Genomic Medicine, 2025

Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific population.

Bernhardt I et al.

Molecular Genetics and Metabolism, 2024

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."