Associated Papers
Functional Testing of Human Disease Missense Variants in Caenorhabditis elegans by Targeting COQ2 Variants.
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Kidney International Reports, 2025
41141493 (PubMed )
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Gait Apraxia with Exaggerated Upper Limb Movements as Presentation of AARS2 Related Leukoencephalopathy.
Chakraborty AP et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2022
Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases.
Rius R et al.
Genes, 2021
HIGD2A is Required for Assembly of the COX3 Module of Human Mitochondrial Complex IV.
Hock DH et al.
Molecular & Cellular Proteomics : Mcp, 2020
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