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Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder

Human Genetics(2024)10.1007/s00439-024-02656-3Source: DataRank Database

Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder is a research paper published in Human Genetics (2024). On theSindex it has a DataRank of 0. It has been cited 2 times.

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2 citations

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datarank_citation_only_1hop_v6· scope data_onlyMethodology

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Enrichment:Funding (6 grants)Impact (FWCI 0.32)OA: closedTopics (51)IDs (PubMed, OpenAlex)SDGs (1)

FAIR Checklist

Context only (not used in score)

Findable (1/2)

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Accessible (0/2)

Interoperable (0/2)

Reusable (0/3)

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Authors (21)

Cara Skraban ORCID,Atsunori Yoshimura ORCID,Toyonori Sakata,Cesar Alves ORCID,Sarah K. Fiordaliso ORCID

Live enrichment

PubMed:38520561 OpenAlex:https://openalex.org/W4393115604

National Institutes of Health

Grant: T32GM008638

Japan Society for the Promotion of Science

Grant: Overseas Research Fellowship

Japan Society for the Promotion of Science

Grant: 20H05940

Japan Science and Technology Agency

Grant: CREST JPMJCR18S5

National Institutes of Health

Grant: 2T32GM008638-16

Medical Genetics Research Training Grant

Children's Hospital of Philadelphia

FWCI

0.32

Citation Percentile

0.5%

Citation Trend

2024

closedLicense: Springer Nature TDM

publisherhttps://link.springer.com/content/pdf/10.1007/s00439-024-02656-3.pdf

publisherhttps://link.springer.com/article/10.1007/s00439-024-02656-3/fulltext.html

journalhttp://dx.doi.org/10.1007/s00439-024-02656-3

repositoryhttps://pubmed.ncbi.nlm.nih.gov/38520561

https://doi.org/10.1007/s00439-024-02656-3

Fields of Study

RNA modifications and cancerRNA and protein synthesis mechanismsAdvanced biosensing and bioanalysis techniques0303 health sciences03 medical and health sciences

MeSH Terms

Transcription Factor TFIIICAllelesAnimalsChildDevelopmental DisabilitiesChild, PreschoolFemaleHumansMaleIntellectual DisabilityMutationPedigreePhenotypeRNA Polymerase IIITranscription, GeneticZebrafishTranscription Factors, TFIITranscription Factors, TFIII

Keywords

BiologyGeneticsRNA polymerase IIITranscription (linguistics)RNA polymerase IITranscription factorZebrafishGeneRNA polymeraseRNAPromoterGene expressionMaleTranscription, GeneticDevelopmental DisabilitiesPedigreeTranscription Factors, TFIIPhenotypeTranscription Factors, TFIIIChild, PreschoolIntellectual DisabilityMutationTranscription Factor TFIIICAnimalsHumansFemaleChildAlleles

Sustainable Development Goals

SDG 0: Zero hunger

Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder

FAIR Checklist

Authors (21)

Funding (6 grants)

Impact

Open Access

Topics