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Gene · 5981

Papers2,391

Newest first. Swiss-Prot's references are curated; PubTator's text mining finds papers that name the gene, not always ones about it.

TitleJournalYearPMIDFound bySource
The Multifactorial Causes of Down Syndrome During Pregnancy: A Narrative Review of Genetic, Environmental, and Maternal Influences.Health Sci Rep202541356612PubTator, text miningPubMed
ITPR1 Deletion in a Patient With Sensory Ataxic Neuropathy and Sjögren Syndrome.J Peripher Nerv Syst202541325768PubTator, text miningPubMed
Nerve ultrasound, neuronopathy and cough predict sensory neuropathy patients with RFC1 expansions.Brain Commun202541322202PubTator, text miningPubMed
RPA1, RFC1, and POLE Expression in Clear Cell Renal Cell Carcinoma: Immune and Clinical Relevance.Anticancer Res202541318151PubTator, text miningPubMed
Long-read sequencing reveals extensive FMR1 somatic mosaicism in Fragile-X associated tremor/ataxia syndrome in human brain.bioRxiv202541278766PubTator, text miningPubMed
Nerve ultrasound abnormality in RFC1 positive isolated sensory neuropathy is milder than in the full RFC1 canvas phenotype.Clin Neurophysiol Pract202541209352PubTator, text miningPubMed
RFC4 Drives Pancreatic Cancer Progression: Prognostic Relevance and Functional Evidence.Anticancer Res202541151897PubTator, text miningPubMed
Comprehensive phenotyping of RFC1-related disorder: integrating electrophysiological, brain imaging, and otoneurological data in deep phenotyping.Arq Neuropsiquiatr202541145152PubTator, text miningPubMed
Mitochondria-enriched nanovesicles: A novel approach for treating radiation-induced skin injury.Mater Today Bio202541142427PubTator, text miningPubMed
First Report of Co-Occurring FGF14 (SCA27B) and RFC1 (CANVAS) Repeat Expansions in Two of Three Siblings with Late-Onset Cerebellar Ataxia.Cerebellum202541118032PubTator, text miningPubMed
Pseudodominant Inheritance of Biallelic RFC1 Expansions-Revisiting the 3p22-p24 HSN1B Locus.J Peripher Nerv Syst202541084404PubTator, text miningPubMed
Video head impulse test differentiates RFC1-CANVAS, FGF14-SCA27B, and idiopathic late-onset cerebellar ataxias.J Neurol202541055766PubTator, text miningPubMed
Advances in Modeling the Inner Blood-Retinal Barrier: From Static Tissue Cell Cultures to Microphysiological Systems.Pharmaceuticals (Basel)202541011242PubTator, text miningPubMed
Progress and challenges in sporadic late-onset cerebellar ataxias.Nat Rev Neurol202540983776PubTator, text miningPubMed
Identifying potential therapeutic targets for prostate cancer with mediating role in tumor immunity.Discov Oncol202540947455PubTator, text miningPubMed
DNA polymerase α-primase can function as a translesion DNA polymerase.Proc Natl Acad Sci U S A202540928879PubTator, text miningPubMed
Longitudinal Evaluation of Ataxia and Brain Structural Changes in RFC1-Related Disorder.Mov Disord Clin Pract202540908706PubTator, text miningPubMed
Diagnostic Impasse and Wandering in Patients With Rare Neuromuscular Diseases: Insights Into Patient Characteristics From the French National Network for Rare Neuromuscular Diseases (FILNEMUS) and the French National Rare Disease Database (BNDMR).
Eur J Neurol202540905397PubTator, text miningPubMed
Long-read sequencing identifies FGF14 repeat expansions in Parkinson's disease.medRxiv202540894141PubTator, text miningPubMed
Prevalence and Clinical Correlates of Sleep Disorders in RFC1-Spectrum Disorders: A Cross-Sectional Study.Mov Disord202540879541PubTator, text miningPubMed

gene-search-2026-11-11-0.2.0

Sources 12

  • ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
  • ChEMBL, through Open TargetsCC BY-SA 3.0
  • ClinicalTrials.govNo license stated
  • EMBL-EBI's patent proteinsNo added restrictions. Attribution expected
  • GenBank's patent filesNo restrictions from NCBI. Submitters may hold rights
  • HGNCCC0
  • NCBI GenePublic domain (US government)
  • NIH's project files and grant-paper linksPublic domain
  • Open TargetsCC0 1.0
  • PubMedNLM's terms
  • PubTator 3Public domain
  • UniProtCC BY 4.0
Each source's terms
  • ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
  • ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
  • ClinicalTrials.govnone stated
  • EMBL-EBI's patent proteinsEMBL-EBI's patent protein files from the EPO, JPO, KIPO and USPTO. EMBL-EBI: "EMBL-EBI itself places no additional restrictions on the use or redistribution of the data available via its Data Resources and Tools other than those provided by the original data owners" and "EMBL-EBI expects attribution (e.g. in publications, services or products) for the use of any of its Data Resources and Tools." Read on 11 Nov 2026 at https://www.ebi.ac.uk/about/terms-of-use
  • GenBank's patent filesGenBank's patent files. NCBI: "NCBI places no restrictions on the use or distribution of the GenBank data. However, some submitters may claim patent, copyright, or other intellectual property rights in all or a portion of the data they have submitted." Read on 11 Nov 2026 at https://www.ncbi.nlm.nih.gov/genbank/about/
  • HGNCCC0: https://www.genenames.org/about/license/
  • NCBI GeneNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
  • NIH's project files and grant-paper linksPublic domain (NIH RePORTER)
  • Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
  • PubMedNLM's terms
  • PubTator 3Public domain
  • UniProtCC BY 4.0. UniProt's licence file: "All databases and documents in the UniProt FTP directory may be copied and redistributed freely, without advance permission, provided that this copyright statement is reproduced with each copy." UniProt asks that users cite its latest paper: The UniProt Consortium, UniProt: the Universal Protein Knowledgebase in 2025, Nucleic Acids Research 53:D609-D617, https://doi.org/10.1093/nar/gkae1010. Read on 9 Nov 2026 at https://www.uniprot.org/help/license

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

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