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Clinical variants in Caenorhabditis elegans expressing human STXBP1 reveal a novel class of pathogenic variants and classify variants of uncertain significance

Genetics in Medicine Open(2023)10.1016/j.gimo.2023.100823Source: DataRank Database

Clinical variants in Caenorhabditis elegans expressing human STXBP1 reveal a novel class of pathogenic variants and classify variants of uncertain significance is a research paper published in Genetics in Medicine Open (2023). On theSindex it has a DataRank of 0. It has been cited 6 times.

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0DataRank · unranked

Scored on demand from live citation data

Open Access6 citations

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Linked data & code

refseq nct

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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 1.31)OA: goldTopics (22)IDs (PubMed, PMC, OpenAlex)Annotations (2)SDGs (2)

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)

Kathryn McCormick,Trisha Brock ORCID,Matthew L.B. Wood,Sarah Ruggiero,Kolt Mcbride

Live enrichment

PubMed:38827422 PMC:PMC11141691 OpenAlex:https://openalex.org/W4379743094

NIH

Grant: R43NS108847

NIA NIH HHS

Grant: R43 AG061978

NIGMS NIH HHS

Grant: R43 GM133229

NHGRI NIH HHS

Grant: R43 HG010852

NINDS NIH HHS

Grant: R43 NS113691

National Institutes of Health

Grant: 1R43NS108847-01A1

Resubmission: Systems for Exploring Pathogenicity in Clinical Variants of a Presynaptic Protein Involved in Epilepsy

FWCI

1.31

Citation Percentile

0.8%

Citation Trend

2023

2024

2025

2026

goldLicense: cc-by

journalhttp://www.gimopen.org/article/S2949774423008324/pdf

publisherhttp://www.gimopen.org/article/S2949774423008324/pdf

publisherhttps://api.elsevier.com/content/article/PII:S2949774423008324?httpAccept=text/xml

publisherhttps://api.elsevier.com/content/article/PII:S2949774423008324?httpAccept=text/plain

journalhttps://doi.org/10.1016/j.gimo.2023.100823

Fields of Study

Genomics and Rare DiseasesGenetics, Aging, and Longevity in Model OrganismsConnective tissue disorders research0303 health sciences03 medical and health sciences

Keywords

Caenorhabditis elegansBiologyGeneticsComputational biologyClass (philosophy)GeneArtificial intelligenceComputer scienceUnc-18CrisprStxbp1Variant Of Uncertain SignificanceClinical VariantRMedicineQH426-470Article

Sustainable Development Goals

SDG 3: 3. Good healthSDG 0: Zero hunger

Clinical variants in Caenorhabditis elegans expressing human STXBP1 reveal a novel class of pathogenic variants and classify variants of uncertain significance

FAIR Checklist

Authors (10)

Funding (6 grants)

Impact

Open Access

Topics

Annotations (Europe PMC)