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PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62704Source: DataRank Database

PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature is a research paper published in American Journal of Medical Genetics Part A (2022). On theSindex it has a DataRank of 0. It has been cited 4 times.

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0DataRank · unranked

Scored on demand from live citation data

Open Access4 citations

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Linked data & code

omim refseq doi

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (8 grants)Impact (FWCI 0.19)OA: greenTopics (25)IDs (PubMed, PMC, OpenAlex)Annotations (3)

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 (15)

David R. Murdock ORCID,Lindsay C. Burrage ORCID,Hongzheng Dai ORCID,Seema R. Lalani ORCID,Richard A. Lewis ORCID

Live enrichment

PubMed:35194938 PMC:PMC11149102 OpenAlex:https://openalex.org/W4213439896

National Institutes of Health

Grant: DP5OD026428

National Institutes of Health

Grant: U01HG007709

National Institutes of Health

Grant: U01HG007942

Burroughs Wellcome Fund

Robert and Janice McNair Foundation

Texas Children's Hospital

Baylor College of Medicine

Child Neurology Foundation

FWCI

0.19

Citation Percentile

0.5%

Citation Trend

2023

2026

greenLicense: http://onlinelibrary.wiley.com/termsAndConditions#vor

repositoryhttps://www.ncbi.nlm.nih.gov/pmc/articles/11149102

publisherhttps://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62704

publisherhttps://onlinelibrary.wiley.com/doi/full-xml/10.1002/ajmg.a.62704

journalhttps://doi.org/10.1002/ajmg.a.62704

Fields of Study

Peptidase Inhibition and AnalysisMechanisms of cancer metastasisMetalloenzymes and iron-sulfur proteins

MeSH Terms

ChildExonsHistidineHumansMaleMicrocephalyMuscle HypotoniaPedigreePhosphoric Monoester Hydrolases

Keywords

HypotoniaBiologyMicrocephalyExonGeneticsNeurodevelopmental disorderPhenotypeCorpus callosumNeuroscienceGeneAlternative splicingSpastic ParaparesisSplice Site Variant