Varaico: Literature-Extracted Genetic Variants

Gene:YARS2
Variant:p.R316S
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YARS2

NM_001040436.3:p.R316S

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

Congenital-onset MLASA2 from a novel YARS2 variant: A literature review.

Eisenkölbl A et al.

Journal of Neuromuscular Diseases, 2025

Decompensation of cardiorespiratory function and emergence of anemia during pregnancy in a case of mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 2 with compound heterozygous YARS2 pathogenic variants.

Rudaks LI et al.

American Journal of Medical Genetics. Part A, 2022

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."