Varaico: Literature-Extracted Genetic Variants

Gene:IARS2
Variant:p.R784W
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IARS2

NM_018060.4:p.R784W

Associated Papers

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

Watanabe M et al.

Genes, 2024

Primary mitochondrial disorders and mimics: Insights from a large French cohort.

Rouzier C et al.

Annals of Clinical and Translational Neurology, 2024

38703036 (PubMed )
Supplement: ACN3-11-1478-s004.xlsx › children_patients

Pan-cancer assessment of mutational landscape in intrinsically disordered hotspots reveals potential driver genes.

Zou H et al.

Nucleic Acids Research, 2022

35061901 (PubMed )
Supplement: gkac028_supplemental_files.zip › Table_S3_new.xlsx › Sheet1

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

Upadia J et al.

Clinical Case Reports, 2022

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