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.
21 to 40 of 2,391
Download this page as JSON| Title | Journal | Year | PMID | Found by | Source |
|---|---|---|---|---|---|
| Phenotype and Genetics of Spinocerebellar Ataxia Type 27B: Novel Movement-disorder Features, Cognitive Impairment, and Repeat Expansion Findings. | Cerebellum | 2026 | 42371259 | PubTator, text mining | PubMed |
| [CANVAS and RFC1-related disease - a broad clinical spectrum from cough and neuropathy to cerebellar ataxia]. | Lakartidningen | 2026 | 42290619 | PubTator, text mining | PubMed |
| Frequency and phenotype of GAA-FGF14 disease in bilateral vestibulopathy syndromes: insights from repeat expansion carriers, including a case of co-occurrence with RFC1-related CANVAS. | J Neurol | 2026 | 42178418 | PubTator, text mining | PubMed |
| Comprehensive neuropsychological assessment and FDG-PET imaging in patients with RFC1-related disorder. | Parkinsonism Relat Disord | 2026 | 42172733 | PubTator, text mining | PubMed |
| Motor, Extrapyramidal, and Cognitive Involvement in RFC1 Disease: A Systematic Review and Meta-Analysis. | Neurol Genet | 2026 | 42109533 | PubTator, text mining | PubMed |
| Identification of FGF14 GAA Expansions in Polish Patients with Undiagnosed Cerebellar Ataxia - A Preliminary Study. | Cerebellum | 2026 | 42096001 | PubTator, text mining | PubMed |
| Genome-wide detection and clinical prioritization of tandem repeat outliers using long-read sequencing. | medRxiv | 2026 | 42094143 | PubTator, text mining | PubMed |
| Maternal RFC1 Gene Polymorphisms and Neural Tube Defects: A Case-Control Study in Ethiopia. | Genes (Basel) | 2026 | 42074596 | PubTator, text mining | PubMed |
| Detection of short tandem repeat expansions on a targeted neurological gene panel using STRipy improves the diagnostic rate for ataxias. | Brain Commun | 2026 | 42038259 | PubTator, text mining | PubMed |
| Homozygous RFC1 AAGGG Repeat Expansions Are Common in Idiopathic Peripheral Neuropathy. | Ann Neurol | 2026 | 41964406 | PubTator, text mining | PubMed |
| Integrative genomics reveal genetic links of chronic cough with risk factors and brain regional volumes. | ERJ Open Res | 2026 | 41878282 | PubTator, text mining | PubMed |
| Clinical and genetic diagnostic challenges in presumed hereditary ataxia. | J Neurol | 2026 | 41870659 | PubTator, text mining | PubMed |
| Pressure cycling technology-assisted data-independent acquisition proteomics reveals molecular alterations and potential therapeutic targets in minor glomerular abnormalities. | Precis Clin Med | 2026 | 41868779 | PubTator, text mining | PubMed |
| Childhood-Onset Huntington's Disease-Like Presentation of SCA17 with Intermediate Repeats, A Case Report. | Cerebellum | 2026 | 41843312 | PubTator, text mining | PubMed |
| Targeted neurological screening for RFC1-related disease in unexplained chronic cough. | J Neurol | 2026 | 41840142 | PubTator, text mining | PubMed |
| Folate promotes colorectal cancer progression by impairing CD8+ T cell function and recruitment via SLC19A1/p-AKT/NOTCH1 axis and CCL5 downregulation. | J Transl Med | 2026 | 41827010 | PubTator, text mining | PubMed |
| Leveraging proteomics and machine learning for mechanism and biomarker discovery on glioma progression and transformation: from LGG to GBM. | Hum Genomics | 2026 | 41807981 | PubTator, text mining | PubMed |
| Vestibular assessment in definite cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS): A case of siblings study. | Auris Nasus Larynx | 2026 | 41780084 | PubTator, text mining | PubMed |
| Short tandem repeat expansions in patients with neurodegenerative dementia. | EBioMedicine | 2026 | 41762523 | PubTator, text mining | PubMed |
| Structure of the human CTF18-RFC clamp loader bound to PCNA. | Elife | 2026 | 41730002 | 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.
For software
Read this list from software.
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GET https://conductscience.org/api/genes/v1/5981/papers?page=2