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Atypical Presentation of IARS1‐Related Disorder: Expanding the Phenotype and Genotype

JIMD Reports(2025)10.1002/jmd2.70020Source: DataRank Database

Atypical Presentation of IARS1‐Related Disorder: Expanding the Phenotype and Genotype is a research paper published in JIMD Reports (2025). On theSindex it has a DataRank of 0. It has been cited 1 time.

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Enrichment:Funding (3 grants)OA: goldTopics (13)IDs (PubMed, PMC)Annotations (1)

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Reusable (0/3)

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Authors (8)

Kira E. Jonatzke,Benjamin T. Hyde,Lance W. Peterson ORCID,Mai He ORCID,Robert C. McKinstry ORCID

Live enrichment

PubMed:40365325 PMC:PMC12069011

National Institute of General Medical Sciences

Grant: GM136441

NIGMS NIH HHS

Grant: R35 GM136441

National Institutes of Health

Grant: 5R35GM136441-05

Defining the Role of Aminoacyl-tRNA Synthetases in Human Health and Disease

goldLicense: cc-by

publisherhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/jmd2.70020

publisherhttps://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.70020

repositoryhttps://digitalcommons.wustl.edu/oa_4/7013

repositoryhttps://doaj.org/article/b5cb9cd0affe4ecf8b7f980ef00900c7

repositoryhttps://www.ncbi.nlm.nih.gov/pmc/articles/12069011

Fields of Study

0303 health sciences03 medical and health sciences

Keywords

IsoleucineImmune DysregulationIars1Aminoacyl‐Trna SynthetaseAminoacyl‐trna Synthetase DeficienciesGrowth Retardation, Impaired Intellectual Development, Hypotonia, And HepatopathyResearch ReportGeneticsQH426-470RC648-665Diseases of the endocrine glands. Clinical endocrinology

Atypical Presentation of IARS1‐Related Disorder: Expanding the Phenotype and Genotype

FAIR Checklist

Authors (8)

Funding (3 grants)

Open Access

Topics

Annotations (Europe PMC)