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Rapid genome sequencing identifies a novel de novoSNAP25variant for neonatal congenital myasthenic syndrome

Molecular Case Studies(2022)10.1101/mcs.a006242Source: DataRank Database

Rapid genome sequencing identifies a novel de novoSNAP25variant for neonatal congenital myasthenic syndrome is a research paper published in Molecular Case Studies (2022). On theSindex it has a DataRank of 0. It has been cited 15 times.

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Scored on demand from live citation data

Open Access15 citations

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omim

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

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Enrichment:Funding (3 grants)OA: goldTopics (22)IDs (PubMed, PMC)Annotations (1)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 (19)

Ting Wen ORCID,Andrew Farrell ORCID,Rong Mao ORCID,Barry Moore,Steven E. Boyden ORCID

Live enrichment

PubMed:36379720 PMC:PMC9808558

NCATS NIH HHS

Grant: UL1 TR002538

NIH HHS

Grant: S10 OD021644

National Institutes of Health

Grant: 1S10OD021644-01A1

From genomics to natural language processing: A protected environment for research computing in the health science

goldLicense: cc-by-nc

publisherhttp://molecularcasestudies.cshlp.org/content/8/7/a006242.full.pdf

publisherhttps://syndication.highwire.org/content/doi/10.1101/mcs.a006242

repositoryhttps://www.ncbi.nlm.nih.gov/pmc/articles/9808558

Europe_PMChttps://europepmc.org/articles/PMC9808558

Europe_PMChttps://europepmc.org/articles/PMC9808558?pdf=render

Fields of Study

0301 basic medicine03 medical and health sciences0302 clinical medicine

MeSH Terms

HumansMyasthenic Syndromes, CongenitalChromosome MappingPedigreePhenotypeSynaptosomal-Associated Protein 25Whole Genome Sequencing

Keywords

PolyhydramniosArthrogryposis Multiplex CongenitaHydrops FetalisTalipes Cavus EquinovarusResearch ReportMyasthenic Syndromes, CongenitalPhenotypeSynaptosomal-Associated Protein 25Whole Genome SequencingHumansChromosome MappingPedigree

Sustainable Development Goals

SDG 3: 3. Good health