Varaico: Literature-Extracted Genetic Variants

Gene:SQOR
Variant:p.L149delFs
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SQOR

NM_021199.4:p.L149delFs

Associated Papers

Exclusion of sulfide:quinone oxidoreductase from mitochondria causes Leigh-like disease in mice by impairing sulfide metabolism.

Kanemaru E et al.

The Journal of Clinical Investigation, 2024

Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis.

Kožich V et al.

Redox Biology, 2022

Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease.

Friederich MW et al.

Journal of Inherited Metabolic Disease, 2020

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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."