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- source_evidence_literature type ECO_0000212 NP1044833.RAljNXg2htQED0Rsu0NC9w4rUa036AkFjtOUMwxuk00Mg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1044833.RAljNXg2htQED0Rsu0NC9w4rUa036AkFjtOUMwxuk00Mg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1044833.RAljNXg2htQED0Rsu0NC9w4rUa036AkFjtOUMwxuk00Mg130_provenance.
- NP1044833.RAljNXg2htQED0Rsu0NC9w4rUa036AkFjtOUMwxuk00Mg130_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." NP1044833.RAljNXg2htQED0Rsu0NC9w4rUa036AkFjtOUMwxuk00Mg130_provenance.
- NP1044833.RAljNXg2htQED0Rsu0NC9w4rUa036AkFjtOUMwxuk00Mg130_assertion evidence source_evidence_literature NP1044833.RAljNXg2htQED0Rsu0NC9w4rUa036AkFjtOUMwxuk00Mg130_provenance.
- NP1044833.RAljNXg2htQED0Rsu0NC9w4rUa036AkFjtOUMwxuk00Mg130_assertion SIO_000772 23329375 NP1044833.RAljNXg2htQED0Rsu0NC9w4rUa036AkFjtOUMwxuk00Mg130_provenance.
- NP1044833.RAljNXg2htQED0Rsu0NC9w4rUa036AkFjtOUMwxuk00Mg130_assertion wasDerivedFrom befree-2016 NP1044833.RAljNXg2htQED0Rsu0NC9w4rUa036AkFjtOUMwxuk00Mg130_provenance.
- NP1044833.RAljNXg2htQED0Rsu0NC9w4rUa036AkFjtOUMwxuk00Mg130_assertion wasGeneratedBy ECO_0000203 NP1044833.RAljNXg2htQED0Rsu0NC9w4rUa036AkFjtOUMwxuk00Mg130_provenance.
- befree-2016 importedOn "2016-02-19" NP1044833.RAljNXg2htQED0Rsu0NC9w4rUa036AkFjtOUMwxuk00Mg130_provenance.