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Functional Screen of Wilson Disease ATP7B Variants Reveals Residual Transport Activities

Human Mutation(2025)10.1155/humu/7485658Source: DataRank Database

Functional Screen of Wilson Disease ATP7B Variants Reveals Residual Transport Activities is a research paper published in Human Mutation (2025). On theSindex it has a DataRank of 0. It has been cited 4 times.

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Open Access4 citations

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Linked data & code

Data associated with the publication: Functional screen of Wilson Disease ATP7B variants · Johns Hopkins Research Data Repository

uniprot pdb

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (5 grants)Impact (FWCI 2.98)OA: hybridTopics (33)Linked Datasets (1)DataCite Reuse (1)IDs (PubMed, PMC, OpenAlex)Annotations (2)

FAIR Checklist

Context only (not used in score)

Findable (2/2)

Has DOI
Indexed in repositories

Accessible (1/2)

Open Access

Interoperable (2/2)

DataCite relations
Linked datasets

Reusable (0/3)

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Authors (7)

Tomáš Heger ORCID,Ekaterina Kabin ORCID,William R. Mowrey ORCID,Guillermo del Angel ORCID,Wei Ding ORCID

Live enrichment

PubMed:40661833 PMC:PMC12259332 OpenAlex:https://openalex.org/W4412093487

National Institutes of Health

Grant: 5R01GM129325-08

ChimeraX -- Next Generation Visualization and Analysis Software for Multiscale Modeling

Boehringer Ingelheim Fonds

Lundbeckfonden

Aarhus Universitet

Alexion Pharmaceuticals

FWCI

2.98

Citation Percentile

0.9%

Citation Trend

2025

2026

hybridLicense: cc-by

journalhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1155/humu/7485658

publisherhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1155/humu/7485658

publisherhttps://onlinelibrary.wiley.com/doi/pdf/10.1155/humu/7485658

journalhttps://doi.org/10.1155/humu/7485658

repositoryhttps://pubmed.ncbi.nlm.nih.gov/40661833

Fields of Study

Trace Elements in HealthHeavy Metal Exposure and ToxicityMetabolism and Genetic Disorders0303 health sciences03 medical and health sciences

MeSH Terms

Copper-Transporting ATPasesBiological TransportCopperFibroblastsHepatolenticular DegenerationHumansMutationGenetic Association StudiesCopper-transporting ATPases

Keywords

BiologyDiseaseGeneticsComputational biologyWilson's diseaseInternal medicineCopperVariantsMutationsWilson diseaseATP7BBiological TransportFibroblastsHepatolenticular DegenerationCopper-Transporting ATPasesMutationHumansGenetic Association StudiesResearch Article

Data associated with the publication: Functional screen of Wilson Disease ATP7B variants

10.7281/t1ze6o8dJohns Hopkins Research Data Repository