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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
Erratum for the Research Article "AAGGG repeat expansions trigger RFC1-independent synaptic dysregulation in human CANVAS neurons" by C. Maltby et al.Sci Adv202642826216PubTator, text miningPubMed
Lightweight CNN recognition of HeLa cell PCNA‑based S‑phase subphases and RFC‑dependent dynamics.Acta Neurobiol Exp (Wars)202642808670PubTator, text miningPubMed
Hereditary and Non-hereditary Cerebellar Ataxias in Latvia: Six Years of Experience at the National Reference Centre (ERN-RND Affiliated Partner).Cerebellum202642802208PubTator, text miningPubMed
Association of solute carrier family 19 member 1 (SLC19A1) A80G polymorphism with the maternal risk for having a child with Down syndrome: A systematic review and meta-analysis.Mutat Res Rev Mutat Res202642762765PubTator, text miningPubMed
Cramps as the initial presentation of CANVAS/RFC1-related disorder.J Neuromuscul Dis202642758088PubTator, text miningPubMed
Neuropathology of a patient with Parkinson's disease and biallelic expansion in RFC1.Brain Pathol202642757740PubTator, text miningPubMed
Non-coding repeat expansions within NOTCH2NLC and RFC1 genes contribute to unsolved inherited peripheral neuropathies.J Hum Genet202642716992PubTator, text miningPubMed
Characteristics of a Cohort of Individuals With SCA27B Associated With Repeat Expansions in FGF14.Neurol Genet202642699715PubTator, text miningPubMed
Optimized Cas9-Enriched Nanopore Sequencing and Analysis Workflow for Clinical Diagnosis of Repeat Expansion Disorders.Adv Sci (Weinh)202642667167PubTator, text miningPubMed
The Genetic Architecture of Chronic Cough: From Sensory Hypersensitivity to Treatable Trait.Pulm Ther202642633611PubTator, text miningPubMed
Does CANVAS mimic MSA-C? A prospective multimodal study.J Neurol202642616133PubTator, text miningPubMed
Population Pharmacokinetic Analysis of Factors Affecting the Clearance of Methotrexate Polyglutamates in Red Blood Cells in Japanese Patients with Rheumatoid Arthritis.Mod Rheumatol202642593763PubTator, text miningPubMed
RFC1 Repeat Expansions in Chronic Idiopathic Axonal Polyneuropathy: Prevalence, Phenotype, and Diagnostic Implications.J Peripher Nerv Syst202642584421PubTator, text miningPubMed
Mechanistic diversity of clamp loading at small DNA gaps.J Biol Chem202642575442PubTator, text miningPubMed
Corticospinal conduction in RFC1-related disease: a transcranial magnetic stimulation study.Neurol Sci202642554841PubTator, text miningPubMed
Uncovering Neuropathic Pain in CANVAS: Lessons from a Case-Based Literature Review.Pain Ther202642525371PubTator, text miningPubMed
Structural basis of the RNA-editing cascade in trypanosome mitochondria.Nature202642486989PubTator, text miningPubMed
DNA Repair Pathway Variants Are Enriched in Individuals with Biallelic AAGGG CANVAS and RFC1-Related Disease.Mov Disord202642473260PubTator, text miningPubMed
Confirmatory Molecular Diagnosis of RFC1 Expansion in a Korean CANVAS Case Using Nanopore Cas9-Targeted Sequencing.J Clin Neurol202642421413PubTator, text miningPubMed
Bi- and Mono-Allelic RFC1 Expansion in a North American Cohort With Idiopathic Axonal Neuropathy.Ann Clin Transl Neurol202642402724PubTator, 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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