Varaico: Literature-Extracted Genetic Variants

Gene:ECHS1
Variant:p.D289N
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ECHS1

NM_004092.4:p.D289N

Associated Papers

Deficiency in the conserved ECHS1 gene causes Leigh syndrome by impairing mitochondrial respiration efficiency and suppressing ADRB2-PKA signaling.

Wang B et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 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."