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Case Report: Association of Ocular Colobomas With a Novel Missense Variant in CDC42, a Member of the Rho Family of Small GTPases

Clinical Genetics(2025)10.1111/cge.14768Source: DataRank Database

Case Report: Association of Ocular Colobomas With a Novel Missense Variant in CDC42, a Member of the Rho Family of Small GTPases is a research paper published in Clinical Genetics (2025). On theSindex it has a DataRank of 0.

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (6 grants)Impact (FWCI 0.00)OA: hybridTopics (30)IDs (PubMed, PMC, OpenAlex)Annotations (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 (12)

Nawaal Shinwari,Aleksey Porollo ORCID,Eniolami O. Dosunmu ORCID,Ehsan Ullah ORCID,Bin Guan ORCID

Live enrichment

PubMed:40371891 PMC:PMC12353887 OpenAlex:https://openalex.org/W4410406059

National Eye Institute

Grant: 1R01 EY032976

National Eye Institute

Grant: 1R01 EY035500

National Eye Institute

Grant: R01 EY024373

NEI NIH HHS

Grant: R01 EY035500

NEI NIH HHS

Grant: R01 EY014954

NEI NIH HHS

Grant: R01 EY032976

FWCI

0.00

Citation Percentile

0.1%

hybridLicense: cc-by-nc-nd

journalhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/cge.14768

publisherhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/cge.14768

publisherhttps://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14768

journalhttps://doi.org/10.1111/cge.14768

repositoryhttps://pubmed.ncbi.nlm.nih.gov/40371891

Fields of Study

Genomics and Rare DiseasesGenomic variations and chromosomal abnormalitiesCell Adhesion Molecules ResearchHumansMaleColobomaMutation, Missensecdc42 GTP-Binding ProteinChild, PreschoolExome SequencingPhenotypeGenetic Association Studies

MeSH Terms

Exome SequencingChild, PreschoolColobomaHumansMalePhenotypeMutation, Missensecdc42 GTP-Binding ProteinGenetic Association Studies

Keywords

Missense mutationColobomaCDC42GeneticsBiologyMutationGTPaseGeneTakenouchi‐kosaki Syndrome