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- source_evidence_literature type ECO_0000212 NP573794.RAKBIsD1rp9b557Zg0eHuAdoMRFIRTPCDjOhUcaCyDW2E130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP573794.RAKBIsD1rp9b557Zg0eHuAdoMRFIRTPCDjOhUcaCyDW2E130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP573794.RAKBIsD1rp9b557Zg0eHuAdoMRFIRTPCDjOhUcaCyDW2E130_provenance.
- NP573794.RAKBIsD1rp9b557Zg0eHuAdoMRFIRTPCDjOhUcaCyDW2E130_assertion description "[Mutations in the skeletal-muscle ryanodine-receptor gene (RYR1) are associated with malignant hyperthermia susceptibility and the congenital myopathies central core disease and multiminicore disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP573794.RAKBIsD1rp9b557Zg0eHuAdoMRFIRTPCDjOhUcaCyDW2E130_provenance.
- NP573794.RAKBIsD1rp9b557Zg0eHuAdoMRFIRTPCDjOhUcaCyDW2E130_assertion evidence source_evidence_literature NP573794.RAKBIsD1rp9b557Zg0eHuAdoMRFIRTPCDjOhUcaCyDW2E130_provenance.
- NP573794.RAKBIsD1rp9b557Zg0eHuAdoMRFIRTPCDjOhUcaCyDW2E130_assertion SIO_000772 17033962 NP573794.RAKBIsD1rp9b557Zg0eHuAdoMRFIRTPCDjOhUcaCyDW2E130_provenance.
- NP573794.RAKBIsD1rp9b557Zg0eHuAdoMRFIRTPCDjOhUcaCyDW2E130_assertion wasDerivedFrom befree-2016 NP573794.RAKBIsD1rp9b557Zg0eHuAdoMRFIRTPCDjOhUcaCyDW2E130_provenance.
- NP573794.RAKBIsD1rp9b557Zg0eHuAdoMRFIRTPCDjOhUcaCyDW2E130_assertion wasGeneratedBy ECO_0000203 NP573794.RAKBIsD1rp9b557Zg0eHuAdoMRFIRTPCDjOhUcaCyDW2E130_provenance.
- befree-2016 importedOn "2016-02-19" NP573794.RAKBIsD1rp9b557Zg0eHuAdoMRFIRTPCDjOhUcaCyDW2E130_provenance.