Associated Papers
Clinical and molecular characterization of novel FARS2 variants causing neonatal mitochondrial disease.
Chen W et al.
Molecular Genetics and Metabolism, 2023
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.
Tan J et al.
Ebiomedicine, 2020
32305867 (PubMed )
Supplement: mmc3.xlsx › Excluded_variants
Kinetic and structural changes in HsmtPheRS, induced by pathogenic mutations in human FARS2.
Kartvelishvili E et al.
Protein Science : a Publication of the Protein Society, 2017
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