Pilot corpus: NIH-funded biomedical datasets. Any DOI can be scored on demand — network effects sharpen as coverage grows.

Genotype-Phenotype Correlation and Functional Insights for Two Monoallelic TREX1 Missense Variants Affecting the Catalytic Core

Genes(2022)10.3390/genes13071179Source: DataRank Database

Genotype-Phenotype Correlation and Functional Insights for Two Monoallelic TREX1 Missense Variants Affecting the Catalytic Core is a research paper published in Genes (2022). On theSindex it has a DataRank of 0. It has been cited 2 times.

N/A

0DataRank · unranked

Scored on demand from live citation data

Open Access2 citations

Download PDF

Cite:

Linked data & code

refsnp omim refseq pdb doi

DataRank reads this dataset's downstream impact straight off the citation graph — no black box, no proprietary weighting. How is this computed?

›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (11 grants)Impact (FWCI 0.15)OA: goldTopics (41)IDs (PubMed, PMC, OpenAlex)Annotations (5)SDGs (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)

FAIR checklist signals are shown for context only and do not affect DataRank scoring.

Run a calibrated FAIR evaluation for this paper →

We only score data papers we can read in full — never from an abstract alone.

Authors (14)

Wayne O. Hemphill ORCID,Mariasavina Severino ORCID,Claudio Moratti ORCID,Rosario Pascarella ORCID,Marta Bertamino ORCID

Live enrichment

PubMed:35885962 PMC:PMC9323106 OpenAlex:https://openalex.org/W4283753341

Compagnia di San Paolo

Grant: ROL 20573

Compagnia di San Paolo

Grant: P30CA012197

Compagnia di San Paolo

Grant: T32-GM095440

Compagnia di San Paolo

Grant: T32-AI007401

NIAID NIH HHS

Grant: T32 AI007401

NIAID NIH HHS

Grant: R01 AI116725

NIGMS NIH HHS

Grant: T32 GM095440

National Institutes of Health

Grant: 2P30CA012197-22

CORE--DNA SYNTHESIS

National Institutes of Health

Grant: 5T32GM007401-10

ADVANCED RESEARCH TRAINING PROGRAM IN GENETICS

National Institutes of Health

Grant: 1T32GM095440-01

Structural and Computational Biophysics Training Program

National Institutes of Health

Grant: 1R01AI116725-01A1

The TREX1 Pathway in Autoimmune Disease

FWCI

0.15

Citation Percentile

0.4%

Citation Trend

2022

2023

goldLicense: cc-by

journalhttps://www.mdpi.com/2073-4425/13/7/1179/pdf?version=1656579794

publisherhttps://www.mdpi.com/2073-4425/13/7/1179/pdf?version=1656579794

publisherhttps://www.mdpi.com/2073-4425/13/7/1179/pdf

journalhttps://doi.org/10.3390/genes13071179

repositoryhttps://pubmed.ncbi.nlm.nih.gov/35885962

Fields of Study

interferon and immune responsesRNA regulation and diseaseMicroRNA in disease regulation0301 basic medicine0303 health sciences03 medical and health sciences

MeSH Terms

ExodeoxyribonucleasesHumansNervous System MalformationsPhosphoproteinsMutation, MissenseCatalytic DomainAutoimmune Diseases of the Nervous SystemCADASILGenetic Association Studies

Keywords

Missense mutationPhenotypeGeneticsGenotypeBiologyGeneSmall Vessel DiseaseAicardi-goutières SyndromeStroke GeneticsCadasil-like GeneticsTrex1 DisordersTrex1 Functional AssayMonogenic StrokeBiochemistry and Molecular BiologyMutation, MissenseBiology and Life SciencesCADASILNervous System MalformationsPhosphoproteinsArticleAicardi-Goutières Syndrome; CADASIL-like genetics; TREX1 disorders; TREX1 functional assay; monogenic stroke; small vessel disease; stroke geneticsAutoimmune Diseases of the Nervous SystemExodeoxyribonucleasesCatalytic DomainHumansGenetic Association Studies

Sustainable Development Goals

SDG 3: 3. Good healthSDG 16: 16. Peace & justiceSDG 0: Good health and well-being

Genotype-Phenotype Correlation and Functional Insights for Two Monoallelic TREX1 Missense Variants Affecting the Catalytic Core

FAIR Checklist

Authors (14)

Funding (11 grants)

Impact

Open Access

Topics

Annotations (Europe PMC)