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SEC24C deficiency causes trafficking and glycosylation abnormalities in an epileptic encephalopathy with cataracts and dyserythropoeisis

JCI Insight(2025)10.1172/jci.insight.173484Source: DataRank Database

SEC24C deficiency causes trafficking and glycosylation abnormalities in an epileptic encephalopathy with cataracts and dyserythropoeisis is a research paper published in JCI Insight (2025). On theSindex it has a DataRank of 0. It has been cited 5 times.

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0DataRank · unranked

Scored on demand from live citation data

Open Access5 citations

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gen omim uniprot

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (9 grants)Impact (FWCI 3.19)OA: goldTopics (57)IDs (PubMed, PMC, OpenAlex)Annotations (3)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 (25)

Büşranur Çavdarlı ORCID,Taylor Nagai,Miroslav P. Milev ORCID,Alexander Wolff ORCID,Mahsa Mehranfar

Live enrichment

PubMed:40131364 PMC:PMC12128993 OpenAlex:https://openalex.org/W4408830257

German Research Foundation

Grant: EXC 2067/1-390729940

Lower Saxony Ministry for Science and Culture

Grant: ZN3136

National Institutes of Health

Grant: R01MH113362

National Institutes of Health

Grant: R56AG068026

German Centre for Cardiovascular Research

Grant: 81Z0300112

German Research Foundation

Grant: WI 1440/13-1

German Research Foundation

Grant: 423957469

German Research Foundation

Grant: 2043/3-1

Deutsche Forschungsgemeinschaft

Grant: unidentified

unidentified

FWCI

3.19

Citation Percentile

0.9%

Citation Trend

2025

2026

goldLicense: cc-by

journalhttps://doi.org/10.1172/jci.insight.173484

publisherhttps://doi.org/10.1172/jci.insight.173484

publisherhttps://insight.jci.org/articles/view/173484/files/pdf

repositoryhttps://pubmed.ncbi.nlm.nih.gov/40131364

repositoryhttps://resolver.sub.uni-goettingen.de/purl?gro-2/148565

Fields of Study

Amino Acid Enzymes and MetabolismBiomedical Research and PathophysiologyIon Transport and Channel RegulationAnimalsHumansCataractEpilepsyGlycosylationGolgi ApparatusMicrocephalyPedigreeProtein TransportVesicular Transport ProteinsZebrafishAnimals, Genetically Modified

MeSH Terms

AnimalsCataractEpilepsyFemaleGlycosylationGolgi ApparatusHumansMaleMicrocephalyPedigreeZebrafishProtein TransportAnimals, Genetically ModifiedVesicular Transport Proteins

Keywords

CataractsMedicineEpilepsyEncephalopathyGlycosylationPediatricsInternal medicineBiologyOphthalmologyBiochemistryPsychiatryGeneticsNeuroscienceglycobiologyProtein TrafficTopic 1: Genes, Cells and Cell-Based MedicineVesicular Transport ProteinsGolgi ApparatusCataractPedigreeAnimals, Genetically ModifiedProtein TransportMicrocephalyAnimalsHumansTechnology PlatformsZebrafishResearch Article

Sustainable Development Goals

SDG 0: Gender equality

SEC24C deficiency causes trafficking and glycosylation abnormalities in an epileptic encephalopathy with cataracts and dyserythropoeisis

FAIR Checklist

Authors (25)

Funding (9 grants)

Impact

Open Access

Topics

Annotations (Europe PMC)