Varaico: Literature-Extracted Genetic Variants

Gene:IARS2
Variant:p.F227S
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IARS2

NM_018060.4:p.F227S

Associated Papers

Mechanisms and Future Research Perspectives on Mitochondrial Diseases Associated with Isoleucyl-tRNA Synthetase Gene Mutations.

Watanabe M et al.

Genes, 2024

Genotype-phenotype correlation in IARS2-related diseases: A case report and review of literature.

Upadia J et al.

Clinical Case Reports, 2022

Expanding the clinical phenotype of IARS2-related mitochondrial disease.

Vona B et al.

Bmc Medical Genetics, 2018

Novel IARS2 mutations in Japanese siblings with CAGSSS, Leigh, and West syndrome.

Takezawa Y et al.

Brain & Development, 2018

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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."