Associated Papers
A systematic analysis of mitochondrial aminoacyl tRNA synthetase variants in a rare disease cohort.
Ratnaike TE et al.
European Journal of Human Genetics : Ejhg, 2025
Functional Testing of Human Disease Missense Variants in Caenorhabditis elegans by Targeting COQ2 Variants.
Lee GY et al.
Kidney International Reports, 2025
41141493 (PubMed )
Supplement: mmc1.pdf
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
Reid ES et al.
Brain : a Journal of Neurology, 2016
27604308 (PubMed )
Supplement: aww221_supplementary_data.zip › brain-2016-00692-File005.pdf
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