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Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects

Human Genetics(2021)10.1007/s00439-021-02284-1Source: DataRank Database

Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects is a research paper published in Human Genetics (2021). On theSindex it has a DataRank of 0.542. It has been cited 36 times.

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0.542DataRank · unranked

Scored on demand from live citation data

Open Access36 citations

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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 4.15)OA: hybridTopics (91)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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DataRank Breakdown

Base Score 100%Citation Network 0%

Base Score Contribution

0.542

From this paper's citation signal

Citation Network Contribution

Citation network not refreshed for this result

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Authors (25)

Xiaoqin Liu ORCID,Rüdiger Adam ORCID,Sumanth Punuru,Arne Viestenz ORCID,Valeria Strauß

Live enrichment

PubMed:33974130 PMC:PMC8263458 OpenAlex:https://openalex.org/W3160237154

National Institutes of Health

Grant: R01EY012128

National Institutes of Health

Grant: P30EY028102

Oesterreichische Nationalbank

Grant: 17968

National Institutes of Health

Grant: 5R01EY012128-09

Mechanisms of Neurotransmission in Vertebrate Retina

National Institutes of Health

Grant: 5P30EY028102-04

UTHouston Core Center for Vision Research

University of Innsbruck and Medical University of Innsbruck

FWCI

4.15

Citation Percentile

0.9%

Citation Trend

2022

2023

2024

2025

2026

hybridLicense: cc-by

journalhttps://link.springer.com/content/pdf/10.1007/s00439-021-02284-1.pdf

publisherhttps://link.springer.com/content/pdf/10.1007/s00439-021-02284-1.pdf

publisherhttps://link.springer.com/article/10.1007/s00439-021-02284-1/fulltext.html

journalhttps://doi.org/10.1007/s00439-021-02284-1

repositoryhttps://pubmed.ncbi.nlm.nih.gov/33974130

Fields of Study

Celiac Disease Research and ManagementPrion Diseases and Protein MisfoldingCRISPR and Genetic Engineering0301 basic medicine03 medical and health sciences0303 health sciencesAgedAged, 80 and overAlcohol OxidoreductasesAnimalsAutopsyCo-Repressor ProteinsEye Diseases, HereditaryFemaleGene Expression RegulationHomozygoteHumansIntestinal MucosaMalabsorption SyndromesMiceMice, KnockoutMicrovilliMucolipidosesPhenotypePolymorphism, Single NucleotideQa-SNARE ProteinsRNA, MessengerRetinal Cone Photoreceptor CellsRetinal DystrophiesSensory RhodopsinsExome SequencingMicrovillus inclusion diseaseRetinal Dystrophy, Early Onset Severe

MeSH Terms

Exome SequencingAgedAged, 80 and overAlcohol OxidoreductasesAnimalsAutopsyFemaleGene Expression RegulationHomozygoteHumansIntestinal MucosaMalabsorption SyndromesMicrovilliMucolipidosesPhenotypeRNA, MessengerEye Diseases, HereditaryRetinal Cone Photoreceptor CellsMice, KnockoutPolymorphism, Single NucleotideSensory RhodopsinsQa-SNARE ProteinsMiceCo-Repressor ProteinsRetinal Dystrophies

Keywords

BiologyRetinalGeneticsDystrophyMacular dystrophyLoss functionExome sequencingDisease gene identificationMicrovillusPhenotypeGenePolymorphism, Single NucleotideMiceSDG 3 - Good Health and Well-beingMalabsorption SyndromesMucolipidosesAnimalsHumansIntestinal MucosaOriginal InvestigationAgedAged, 80 and overMice, KnockoutMicrovilliQa-SNARE ProteinsHomozygoteEye Diseases, HereditaryEMC MM-04-54-07Alcohol OxidoreductasesGene Expression RegulationFemaleAutopsyCo-Repressor Proteins

Sustainable Development Goals

SDG 10: 10. No inequalitySDG 0: Partnerships for the goals

Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects

FAIR Checklist

DataRank Breakdown

Authors (25)

Funding (6 grants)

Impact

Open Access

Topics

Annotations (Europe PMC)