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Homozygous variant p. Arg90His in NCF1 is associated with early-onset Interferonopathy: a case report

Pediatric Rheumatology(2021)10.1186/s12969-021-00536-ySource: DataRank Database

Homozygous variant p. Arg90His in NCF1 is associated with early-onset Interferonopathy: a case report is a research paper published in Pediatric Rheumatology (2021). On theSindex it has a DataRank of 0. It has been cited 12 times.

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0DataRank · unranked

Scored on demand from live citation data

Open Access12 citations

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (4 grants)OA: goldTopics (26)IDs (PubMed, PMC)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 (11)

Liane Heale ORCID,Dilan Dissanayake ORCID,Wanxia Li Tsai ORCID,Massimo Gadina ORCID,Thomas L. Leto ORCID

Live enrichment

PubMed:33892719 PMC:PMC8063424

Deutsche Forschungsgemeinschaft

Grant: unidentified

unidentified

National Human Genome Research Institute

Deutsche Forschungsgemeinschaft

Division of Intramural Research, National Institute of Allergy and Infectious Diseases

goldLicense: CC BY

publisherhttps://link.springer.com/content/pdf/10.1186/s12969-021-00536-y.pdf

publisherhttps://link.springer.com/article/10.1186/s12969-021-00536-y/fulltext.html

Unpaywallhttps://ped-rheum.biomedcentral.com/track/pdf/10.1186/s12969-021-00536-y

Europe_PMChttps://europepmc.org/articles/PMC8063424

Europe_PMChttps://europepmc.org/articles/PMC8063424?pdf=render

MeSH Terms

HumansAutoimmune DiseasesInterferonsPedigreeHomozygoteChild, PreschoolFemaleNADPH Oxidases

Keywords

InterferonsAutoimmunitysystemic lupus erythematosusAutoinflammationNcf1Homozygote610NADPH OxidasesCase ReportDiseases of the musculoskeletal systemPediatricsRJ1-570Autoimmune DiseasesPedigreeRC925-935Child, PreschoolHumansFemale

Sustainable Development Goals

SDG 3: 3. Good health