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.
121 to 140 of 2,391
Download this page as JSON| Title | Journal | Year | PMID | Found by | Source |
|---|---|---|---|---|---|
| Low progesterone levels and their role in the co-existence of polycystic ovary syndrome and rheumatoid arthritis: A comprehensive analysis among Iraqi patient. | J Steroid Biochem Mol Biol | 2025 | 39870327 | PubTator, text mining | PubMed |
| Acute Vestibular Syndrome Unmasking an RFC1-Spectrum Disorder. | Neurol Genet | 2025 | 39839074 | PubTator, text mining | PubMed |
| Long-read sequencing revealed complex biallelic pentanucleotide repeat expansions in RFC1-related Parkinson's disease. | NPJ Parkinsons Dis | 2025 | 39833204 | PubTator, text mining | PubMed |
| Repeat expansions in RFC1 gene in refractory chronic cough. | ERJ Open Res | 2025 | 39811557 | PubTator, text mining | PubMed |
| Spectrum disorder of RFC1 expansions/CANVAS: Clinical and electrophysiological characterization of a group of 31 patients. | Clin Neurophysiol | 2025 | 39721397 | PubTator, text mining | PubMed |
| An Updated Canvas of the RFC1-mediated CANVAS (Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome). | Mol Neurobiol | 2025 | 38898197 | PubTator, text mining | PubMed |
| Modification Effects of Homologous Recombination Repair Gene Polymorphisms on the Associations Between Urinary Metals and Breast Cancer Risk. | Biol Trace Elem Res | 2025 | 38720017 | PubTator, text mining | PubMed |
| Detecting Gene-Gene Interaction among DNA Repair Genes in Chinese non-Syndromic Cleft lip with or Without Palate Trios. | Cleft Palate Craniofac J | 2025 | 38303570 | PubTator, text mining | PubMed |
| Screening for SCA27B, CANVAS and other repeat expansion disorders in Greek patients with late-onset cerebellar ataxia suggests a need to update current diagnostic algorithms. | J Neurol Sci | 2024 | 39571249 | PubTator, text mining | PubMed |
| Elucidating the pathobiology of Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome (CANVAS) with its expanded RNA structure formation and proteinopathy. | Sci Rep | 2024 | 39543176 | PubTator, text mining | PubMed |
| Early Peripheral Nerve Involvement at the Time of Coughing in Patients With RFC1 Intronic Expansion. | Neurol Genet | 2024 | 39507594 | PubTator, text mining | PubMed |
| Case report: Neuroacanthocytosis associated with novel variants in the VPS13A gene with concomitant nucleotide expansion for CANVAS and assessment with osmotic gradient ektacytometry. | Front Neurosci | 2024 | 39416949 | PubTator, text mining | PubMed |
| Characterizing tandem repeat complexities across long-read sequencing platforms with TREAT and otter. | Genome Res | 2024 | 39406499 | PubTator, text mining | PubMed |
| Unique Gene Expression Profiles within South Africa Are Associated with Varied Chemotherapeutic Responses in Conventional Osteosarcoma. | Cancers (Basel) | 2024 | 39335211 | PubTator, text mining | PubMed |
| Electrophysiological features of the peripheral neuropathy in patients with pathologic biallelic RFC1 repeat expansions. | Muscle Nerve | 2024 | 39286915 | PubTator, text mining | PubMed |
| A multi-exon RFC1 deletion in a case of CANVAS: expanding the genetic mechanism of disease. | J Neurol | 2024 | 39249106 | PubTator, text mining | PubMed |
| AAGGG repeat expansions trigger RFC1-independent synaptic dysregulation in human CANVAS neurons. | Sci Adv | 2024 | 39231235 | PubTator, text mining | PubMed |
| Pseudodominance in RFC1-Spectrum Disorder. | Cerebellum | 2024 | 39230846 | PubTator, text mining | PubMed |
| Nerve ultrasound in CANVAS-spectrum disease: Reduced nerve size distinguishes genetically confirmed CANVAS from other axonal polyneuropathies. | J Peripher Nerv Syst | 2024 | 39219417 | PubTator, text mining | PubMed |
| Genetic profiles of multiple system atrophy revealed by exome sequencing, long-read sequencing and spinocerebellar ataxia repeat expansion analysis. | Eur J Neurol | 2024 | 39152783 | PubTator, text mining | PubMed |
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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