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
Mitochondrial Aminoacyl-tRNA Synthetase and Disease: The Yeast Contribution for Functional Analysis of Novel Variants.
Figuccia S et al.
International Journal of Molecular Sciences, 2021
33926074 (PubMed )
Supplement: ijms-22-04524-s001.zip › Supplementary_table_1.pdf
Sideroblastic anemia with myopathy secondary to novel, pathogenic missense variants in the YARS2 gene.
Smith F et al.
Haematologica, 2018
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