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
Importance of genetic testing in unexplained cardiac arrest.
Grondin S et al.
European Heart Journal, 2022
35352813 (PubMed )
Supplement: ehac145_supplementary_data.zip › CASPER_WES228_supplement_tables_-_R1.xlsx › Supp._Table_5
Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2.
Kennedy H et al.
American Journal of Human Genetics, 2016
27523597 (PubMed )
Supplement: mmc1.pdf
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