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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.

TitleJournalYearPMIDFound bySource
Estimating the Prevalence of Malignant Hyperthermia Susceptibility Based on Causative RYR1 and CACNA1S Variants.Int J Mol Sci202642794754PubTator, text miningPubMed
A New Disease Gene for Hypokalemic Periodic Paralysis, KCNA7 , Established in a Multigenerational Family.bioRxiv202642780157PubTator, text miningPubMed
Generation of two human induced pluripotent stem cell lines from patients with hypokalemic periodic paralysis.Stem Cell Res202642759100PubTator, text miningPubMed
A novel CACNA1S variant associated with diltiazem-related worsening of hypokalemic periodic paralysis: a case report.Neurol Sci202642637926PubTator, text miningPubMed
Molecular genetics of skeletal muscle diseases associated with abnormal excitation-contraction coupling.J Hum Genet202642572084PubTator, text miningPubMed
Managing Secondary Findings from Germline Pharmacogenomic Testing.J Pers Med202642506114PubTator, text miningPubMed
Allosteric interactions between RyR channels justify intracellular Ca2+ release of skeletal muscle in quantitative detail.J Gen Physiol202642479471PubTator, text miningPubMed
The genetic basis of over-retained deciduous teeth and delayed permanent tooth eruption: A systematic review.Am J Orthod Dentofacial Orthop202642446440PubTator, text miningPubMed
Gene Panel Analysis Reveals Overlapping Genetic Causes of Inherited Cataracts and Other Ocular Phenotypes in Bulgarian Patients.Mol Genet Genomic Med202642360812PubTator, text miningPubMed
Hypokalemic Periodic Paralysis in a Young Woman With Mast Cell Activation Syndrome: A Case Report of an Atypical Presentation Associated With an Ultra-Rare CACNA1S Variant.Clin Case Rep202642256938PubTator, text miningPubMed
Pathogenic CaV1.1 Variants Cause Hyperpolarizing Shift of Depolarization-Induced Ca2+ Release in Malignant Hyperthermia Susceptibility.Commun Biol202642215694PubTator, text miningPubMed
A proposed North American approach for genetic testing of individuals at risk for malignant hyperthermia.Can J Anaesth202642189464PubTator, text miningPubMed
Genetic analysis and in silico prediction of CACNA1S and RYR1 variants of sudden unexplained nocturnal death syndrome in Thai population.Forensic Sci Int Genet202642184778PubTator, text miningPubMed
Life-Threatening Hypokalemia Revealing CACNA1S-Related Hypokalemic Periodic Paralysis.Cureus202642099363PubTator, text miningPubMed
Papillary Thyroid Carcinoma, Bilateral Macronodular Adrenal Cortical Disease-Related Cortisol Excess, and Femoral Enchondroma: A Novel Phenotype-Genotype Based on Next-Generation Sequencing (Variants of APC, MSH6, and CACNA1S Genes).
Diagnostics (Basel)202642072810PubTator, text miningPubMed
Hypokalemic periodic paralysis: novel perspectives from genetic mutations to clinical management.Gene202642013926PubTator, text miningPubMed
Hypokalemic periodic paralysis associated with atypical CACNA1S in pregnancy: New challenge for a rare syndrome.Int J Gynaecol Obstet202641944566PubTator, text miningPubMed
L-type calcium channel-mediated lipid metabolic reprogramming in gastric adenocarcinoma progression.Transl Oncol202641861661PubTator, text miningPubMed
A Proposed North American Approach for Genetic Testing of Individuals at Risk for Malignant Hyperthermia.Anesthesiology202641805301PubTator, text miningPubMed
Clinical features and advances in the genetics of periodic paralysis.PeerJ202641800133PubTator, 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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