A Kinetic Model for Compound Heterozygous Pathogenic Variants in Tyrosyl-tRNA Synthetase Gene YARS2-Associated Neonatal Phenotype
J Biol Chem. 2024 Dec 13:108092. doi: 10.1016/j.jbc.2024.108092. Online ahead of print. ABSTRACT Human genetic disorders are often caused by mutations of compound heterozygosity, where …