Gene · 779
Papers2,128
Newest first. Swiss-Prot's references are curated; PubTator's text mining finds papers that name the gene, not always ones about it.
41 to 60 of 2,128
Download this page as JSON| Title | Journal | Year | PMID | Found by | Source |
|---|---|---|---|---|---|
| Clinical and Genetic Characterization of a Novel RYR1 Variant (p.Gln474His) in Malignant Hyperthermia Susceptibility. | Genes (Basel) | 2025 | 41595433 | PubTator, text mining | PubMed |
| A Pediatric Case of Hypokalemic Periodic Paralysis With Fatigue and Myalgia. | Cureus | 2025 | 41527600 | PubTator, text mining | PubMed |
| Uncovering the genetic architecture of ME/CFS: a precision approach reveals impact of rare monogenic variation. | J Transl Med | 2025 | 41444612 | PubTator, text mining | PubMed |
| Thyrotoxic Hypokalemic Periodic Paralysis: Pathophysiological Mechanisms. | Endocrinol Metab (Seoul) | 2025 | 41376301 | PubTator, text mining | PubMed |
| Interactive Role of the DHPR β1a SH3 Domain in Skeletal Muscle Excitation-Contraction Coupling. | Biomolecules | 2025 | 41301528 | PubTator, text mining | PubMed |
| Genetic Testing for Malignant Hyperthermia Susceptibility-Threading the Needle in the Haystack. | Genes (Basel) | 2025 | 41300733 | PubTator, text mining | PubMed |
| Characterisation of pharmacogenomic variation in the Shetland and Orkney Isles in Scotland. | Sci Rep | 2025 | 41298791 | PubTator, text mining | PubMed |
| Sudden Tetraplegia from Hypokalaemic Periodic Paralysis Due to Cacna1s Mutation: Should Genetic Testing be Performed More Often? | Eur J Case Rep Intern Med | 2025 | 41229631 | PubTator, text mining | PubMed |
| The Clinical Pharmacogenetics Implementation Consortium's consensus-based framework for assigning allele function. | Am J Hum Genet | 2025 | 41175864 | PubTator, text mining | PubMed |
| Genetic Characteristics of Brazilian Patients with MH History. | Genes (Basel) | 2025 | 41153347 | PubTator, text mining | PubMed |
| NGS Approaches in Clinical Diagnostics: From Workflow to Disease-Specific Applications. | Int J Mol Sci | 2025 | 41096862 | PubTator, text mining | PubMed |
| Divergent actions of CaV1.1 voltage-sensing domain III in activating EC coupling and channel gating. | Biophys J | 2025 | 41069104 | PubTator, text mining | PubMed |
| Screening for Congenital Myasthenic Syndromes in Adults With Seronegative Myasthenia Gravis Using Next-Generation Sequencing. | Neurology | 2025 | 41004697 | PubTator, text mining | PubMed |
| Specification of frequency criteria for secondary findings genes to improve variant classification concordance. | bioRxiv | 2025 | 41000626 | PubTator, text mining | PubMed |
| Redefining periodic paralysis with CACNA1S mutation in a Spanish cohort. | Neurologia (Engl Ed) | 2025 | 40903148 | PubTator, text mining | PubMed |
| Generation of three iPSC lines from patients with CACNA1S related congenital myopathy. | Stem Cell Res | 2025 | 40885023 | PubTator, text mining | PubMed |
| Genetic Panel Testing for Malignant Hyperthermia in Japan: Discovery of Novel Variants and Clinical Implications. | Genes (Basel) | 2025 | 40869992 | PubTator, text mining | PubMed |
| The Yin and Yang of Heartbeats: Magnesium-Calcium Antagonism Is Essential for Cardiac Excitation-Contraction Coupling. | Cells | 2025 | 40862759 | PubTator, text mining | PubMed |
| COVID-19 infection and intense physical activity in hypokalemic periodic paralysis. | Bol Med Hosp Infant Mex | 2025 | 40829572 | PubTator, text mining | PubMed |
| Precision medicine and the expanding perioperative role by Anaesthesiologists. | Indian J Anaesth | 2025 | 40800698 | 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.
Twenty rows a page, as JSON. No key.
GET https://conductscience.org/api/genes/v1/779/papers?page=3