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Novel EXTL3 Variants Causing Neuro-Immuno-Skeletal Dysplasia

Journal of Clinical Immunology(2024)10.1007/s10875-024-01784-9Source: DataRank Database

Novel EXTL3 Variants Causing Neuro-Immuno-Skeletal Dysplasia is a research paper published in Journal of Clinical Immunology (2024). On theSindex it has a DataRank of 0. It has been cited 3 times.

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0DataRank · unranked

Scored on demand from live citation data

Open Access3 citations

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (3 grants)Impact (FWCI 0.46)OA: greenTopics (31)IDs (PubMed, PMC, OpenAlex)Annotations (1)SDGs (1)

FAIR Checklist

Context only (not used in score)

Findable (1/2)

Has DOI

Accessible (1/2)

Open Access

Interoperable (0/2)

Reusable (0/3)

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Authors (10)

Armen Sanosyan ORCID,Megan A. Cooper ORCID,Jeffrey J. Bednarski ORCID,Catherine Gooch ORCID,Francesca Pala ORCID

Live enrichment

PubMed:39215781 PMC:PMC12035741 OpenAlex:https://openalex.org/W4402093512

Division of Intramural Research

Grant: AI001222

Intramural NIH HHS

Grant: ZIA AI001222

National Institutes of Health

Grant: 1ZIAAI001222-08

Characterization of the cellular and molecular bases of inborn errors of immunity

FWCI

0.46

Citation Percentile

0.6%

Citation Trend

2024

2025

greenLicense: Springer Nature TDM

repositoryhttps://pmc.ncbi.nlm.nih.gov/articles/PMC12035741/pdf/nihms-2073412.pdf

publisherhttps://link.springer.com/content/pdf/10.1007/s10875-024-01784-9.pdf

publisherhttps://link.springer.com/article/10.1007/s10875-024-01784-9/fulltext.html

repositoryhttps://www.ncbi.nlm.nih.gov/pmc/articles/12035741

Fields of Study

Immunodeficiency and Autoimmune DisordersRNA modifications and cancerCell Adhesion Molecules Research0303 health sciences03 medical and health sciences

MeSH Terms

FemaleHumansMaleMutationOsteochondrodysplasiasN-AcetylglucosaminyltransferasesGenetic Predisposition to Disease

Keywords

Medical microbiologyMedicinePathologyDysplasiaNeurologyBiologyImmunologyNeuroscienceSCIDAtoOmenn SyndromeExtl3MaleMutationHumansFemaleGenetic Predisposition to DiseaseOsteochondrodysplasiasN-Acetylglucosaminyltransferases

Sustainable Development Goals

SDG 0: Zero hunger

Novel EXTL3 Variants Causing Neuro-Immuno-Skeletal Dysplasia

FAIR Checklist

Authors (10)

Funding (3 grants)

Impact

Open Access

Topics

Annotations (Europe PMC)