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
41614925 (PubMed )
Supplement: cimb-48-00095-s001.zip › data_survival_MLASA2.xlsx › Hoja1
First Latin American Case of MLASA2 Caused by a Pathogenic Variant in the Anticodon-Binding Domain of YARS2.
Villafán-Bernal JR et al.
International Journal of Molecular Sciences, 2025
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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