Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP676892.RAlLYc9Kj2EYhHsgtVCEtmzqtAI2FDQdzmLeyiFlvjE6A130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP676892.RAlLYc9Kj2EYhHsgtVCEtmzqtAI2FDQdzmLeyiFlvjE6A130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP676892.RAlLYc9Kj2EYhHsgtVCEtmzqtAI2FDQdzmLeyiFlvjE6A130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP676892.RAlLYc9Kj2EYhHsgtVCEtmzqtAI2FDQdzmLeyiFlvjE6A130_provenance.
- NP676892.RAlLYc9Kj2EYhHsgtVCEtmzqtAI2FDQdzmLeyiFlvjE6A130_assertion description "[Mutations in the skeletal muscle ryanodine receptor (RYR1) gene are a common cause of inherited neuromuscular disorders and have been associated with a wide clinical spectrum, ranging from various congenital myopathies to the malignant hyperthermia susceptibility (MHS) trait without any associated weakness.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP676892.RAlLYc9Kj2EYhHsgtVCEtmzqtAI2FDQdzmLeyiFlvjE6A130_provenance.
- NP676892.RAlLYc9Kj2EYhHsgtVCEtmzqtAI2FDQdzmLeyiFlvjE6A130_assertion evidence source_evidence_literature NP676892.RAlLYc9Kj2EYhHsgtVCEtmzqtAI2FDQdzmLeyiFlvjE6A130_provenance.
- NP676892.RAlLYc9Kj2EYhHsgtVCEtmzqtAI2FDQdzmLeyiFlvjE6A130_assertion SIO_000772 23329375 NP676892.RAlLYc9Kj2EYhHsgtVCEtmzqtAI2FDQdzmLeyiFlvjE6A130_provenance.
- NP676892.RAlLYc9Kj2EYhHsgtVCEtmzqtAI2FDQdzmLeyiFlvjE6A130_assertion wasDerivedFrom befree-20150227 NP676892.RAlLYc9Kj2EYhHsgtVCEtmzqtAI2FDQdzmLeyiFlvjE6A130_provenance.
- NP676892.RAlLYc9Kj2EYhHsgtVCEtmzqtAI2FDQdzmLeyiFlvjE6A130_assertion wasGeneratedBy ECO_0000203 NP676892.RAlLYc9Kj2EYhHsgtVCEtmzqtAI2FDQdzmLeyiFlvjE6A130_provenance.
- befree-20150227 importedOn "2015-02-27" NP676892.RAlLYc9Kj2EYhHsgtVCEtmzqtAI2FDQdzmLeyiFlvjE6A130_provenance.