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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
Advances in calcium signalling research for the diagnosis and treatment of depression.Ann Med202641787814PubTator, text miningPubMed
Characterization of a UQCRC1 variant in a patient with progressive weakness, pain and sleep issues reveals a functional mitochondrial defect restored by mitochondrial transplantation.Mol Genet Metab Rep202641783485PubTator, text miningPubMed
A Rare Case of Suspected Malignant Hyperthermia in a Three-Day-Old Neonate: A Case Report.Cureus202641769458PubTator, text miningPubMed
The Clinical, Histological, and Genetic Spectrum of RYR1 Variants-A Multi-Center Israeli Cohort Study.J Clin Med202641753076PubTator, text miningPubMed
From GWAS Signals to Causal Genes in Chronic Kidney Disease.Curr Issues Mol Biol202641751412PubTator, text miningPubMed
Epidemiology, treatment patterns, and survival outcomes of porocarcinoma: A population-based analysis.Medicine (Baltimore)202641731772PubTator, text miningPubMed
Neuromuscular Mechanisms and Oxidative Stress in Skeletal Muscle Atrophy: Emerging Stem Cell and Gene-Based Therapeutic Strategies.Muscles202641718080PubTator, text miningPubMed
Successful management of malignant hyperthermia with dantrolene complicated by upper limb DVT: A case report.Saudi J Anaesth202641710605PubTator, text miningPubMed
A missense variant in ASCL5 leads to lobodontia.Nat Commun202641673016PubTator, text miningPubMed
The ER membrane protein complex acts as a chaperone to promote the biogenesis of multi-bundle membrane proteins.bioRxiv202641648177PubTator, text miningPubMed
Novel CACNA1S Mutation c.3491 A>C in Hypokalemic Periodic Paralysis: First Report with Functional Validation.J Mol Neurosci202641634283PubTator, text miningPubMed
Direct Effects of Capsaicin on Voltage-Dependent Calcium Channels of Mammalian Skeletal Muscle.Biomolecules202641594675PubTator, text miningPubMed
Hypokalemic Periodic Paralysis Associated With a Rare CACNA1S Variant (p.Leu1243Val): Expanding the Mutational Spectrum.Case Rep Genet202641551049PubTator, text miningPubMed
Pharmacotherapy Risks in Rare Genetic Diseases: Cross-Referencing ACMG Secondary Findings v3.2 List With Clinical Databases.Clin Transl Sci202641527333PubTator, text miningPubMed
[Functional analysis of the mutant channels associated with skeletal muscle channelopathies].Nihon Yakurigaku Zasshi202641485931PubTator, text miningPubMed
Identification of novel potentially causative RYR1 variants in individuals with malignant hyperthermia susceptibility.Neuromuscul Disord202641418732PubTator, text miningPubMed
Genetic Study of a Greek Family with Hypokalemic Periodic Paralysis in Four Generations.Adv Exp Med Biol202641273566PubTator, text miningPubMed
Redefining Malignant Hyperthermia: Multi-Omics Insights into a Complex Anesthetic Disorder.Lifestyle Genom202641036649PubTator, text miningPubMed
Endoplasmic reticulum: Regulator of structural potentiation of dendritic spines.Neural Regen Res202640522762PubTator, text miningPubMed
Case Report: Dominant deafness-onychodystrophy syndrome and hypokalemic periodic paralysis in a single patient: a rare syndromic overlap.Front Pediatr202541777697PubTator, 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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