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
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S14.xls › human_pat_mouse_unk_orthovar_14
IARS2-related disease manifesting as sideroblastic anemia and hypoparathyroidism: A case report.
Gong Y et al.
Frontiers in Pediatrics, 2022
Biallelic IARS2 mutations presenting as sideroblastic anemia.
Barcia G et al.
Haematologica, 2021
Expanding the clinical phenotype of IARS2-related mitochondrial disease.
Vona B et al.
Bmc Medical Genetics, 2018
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