Associated Papers
Correlation of MLASA2 Clinical Phenotype and Survival with Mt-TyrRS Protein Damage: Linking Systematic Review, Meta-Analysis and 3D Hotspot Mapping.
Villafan-Bernal JR et al.
Current Issues in Molecular Biology, 2026
Two Novel Variants in YARS2 Gene Are Responsible for an Extended MLASA Phenotype with Pancreatic Insufficiency.
Carreño-Gago L et al.
Journal of Clinical Medicine, 2021
The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2.
Riley LG et al.
Haematologica, 2018
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