Generation of a Patient-Derived Inducible Pluripotent Stem Cell Model for Studying the YARS2-Related Genetic Disease
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The YARS2 variant, harboring the compound heterozygous pathogenic mutations F185L/E264del, was identified in the gene for mitochondrial tyrosyl-tRNA synthetase in a proband that suffered a neonatal phenotype. To facilitate studies to better understand the seve... ...
