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- source_evidence_literature type ECO_0000212 NP1116015.RAu93OhpFxG10XBBWj7jaJGpeCn0FN870Z-hp5pW8tLN8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1116015.RAu93OhpFxG10XBBWj7jaJGpeCn0FN870Z-hp5pW8tLN8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1116015.RAu93OhpFxG10XBBWj7jaJGpeCn0FN870Z-hp5pW8tLN8130_provenance.
- befree-2016 importedOn "2016-02-19" NP1116015.RAu93OhpFxG10XBBWj7jaJGpeCn0FN870Z-hp5pW8tLN8130_provenance.
- NP1116015.RAu93OhpFxG10XBBWj7jaJGpeCn0FN870Z-hp5pW8tLN8130_assertion wasGeneratedBy ECO_0000203 NP1116015.RAu93OhpFxG10XBBWj7jaJGpeCn0FN870Z-hp5pW8tLN8130_provenance.
- NP1116015.RAu93OhpFxG10XBBWj7jaJGpeCn0FN870Z-hp5pW8tLN8130_assertion wasDerivedFrom befree-2016 NP1116015.RAu93OhpFxG10XBBWj7jaJGpeCn0FN870Z-hp5pW8tLN8130_provenance.
- NP1116015.RAu93OhpFxG10XBBWj7jaJGpeCn0FN870Z-hp5pW8tLN8130_assertion SIO_000772 24091937 NP1116015.RAu93OhpFxG10XBBWj7jaJGpeCn0FN870Z-hp5pW8tLN8130_provenance.
- NP1116015.RAu93OhpFxG10XBBWj7jaJGpeCn0FN870Z-hp5pW8tLN8130_assertion evidence source_evidence_literature NP1116015.RAu93OhpFxG10XBBWj7jaJGpeCn0FN870Z-hp5pW8tLN8130_provenance.
- NP1116015.RAu93OhpFxG10XBBWj7jaJGpeCn0FN870Z-hp5pW8tLN8130_assertion description "[RYR1 mutations as a cause of ophthalmoplegia, facial weakness, and malignant hyperthermia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1116015.RAu93OhpFxG10XBBWj7jaJGpeCn0FN870Z-hp5pW8tLN8130_provenance.