Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP718304.RACQjE8S5esA7XEHMRhq65ROQlRRp588oOi1AcqfDnQrs130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP718304.RACQjE8S5esA7XEHMRhq65ROQlRRp588oOi1AcqfDnQrs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP718304.RACQjE8S5esA7XEHMRhq65ROQlRRp588oOi1AcqfDnQrs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP718304.RACQjE8S5esA7XEHMRhq65ROQlRRp588oOi1AcqfDnQrs130_provenance.
- NP718304.RACQjE8S5esA7XEHMRhq65ROQlRRp588oOi1AcqfDnQrs130_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." NP718304.RACQjE8S5esA7XEHMRhq65ROQlRRp588oOi1AcqfDnQrs130_provenance.
- NP718304.RACQjE8S5esA7XEHMRhq65ROQlRRp588oOi1AcqfDnQrs130_assertion evidence source_evidence_literature NP718304.RACQjE8S5esA7XEHMRhq65ROQlRRp588oOi1AcqfDnQrs130_provenance.
- NP718304.RACQjE8S5esA7XEHMRhq65ROQlRRp588oOi1AcqfDnQrs130_assertion SIO_000772 23329375 NP718304.RACQjE8S5esA7XEHMRhq65ROQlRRp588oOi1AcqfDnQrs130_provenance.
- NP718304.RACQjE8S5esA7XEHMRhq65ROQlRRp588oOi1AcqfDnQrs130_assertion wasDerivedFrom befree-20140225 NP718304.RACQjE8S5esA7XEHMRhq65ROQlRRp588oOi1AcqfDnQrs130_provenance.
- NP718304.RACQjE8S5esA7XEHMRhq65ROQlRRp588oOi1AcqfDnQrs130_assertion wasGeneratedBy ECO_0000203 NP718304.RACQjE8S5esA7XEHMRhq65ROQlRRp588oOi1AcqfDnQrs130_provenance.
- befree-20140225 importedOn "2014-02-25" NP718304.RACQjE8S5esA7XEHMRhq65ROQlRRp588oOi1AcqfDnQrs130_provenance.