Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP676943.RA3eEtpJ7XdMaAuFgwtnL745JjtDzwqRkCdXquYvqFgcs130_assertion> ?p ?o ?g. }
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- NP676943.RA3eEtpJ7XdMaAuFgwtnL745JjtDzwqRkCdXquYvqFgcs130_assertion type Assertion NP676943.RA3eEtpJ7XdMaAuFgwtnL745JjtDzwqRkCdXquYvqFgcs130_head.
- NP676943.RA3eEtpJ7XdMaAuFgwtnL745JjtDzwqRkCdXquYvqFgcs130_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." NP676943.RA3eEtpJ7XdMaAuFgwtnL745JjtDzwqRkCdXquYvqFgcs130_provenance.
- NP676943.RA3eEtpJ7XdMaAuFgwtnL745JjtDzwqRkCdXquYvqFgcs130_assertion evidence source_evidence_literature NP676943.RA3eEtpJ7XdMaAuFgwtnL745JjtDzwqRkCdXquYvqFgcs130_provenance.
- NP676943.RA3eEtpJ7XdMaAuFgwtnL745JjtDzwqRkCdXquYvqFgcs130_assertion SIO_000772 23329375 NP676943.RA3eEtpJ7XdMaAuFgwtnL745JjtDzwqRkCdXquYvqFgcs130_provenance.
- NP676943.RA3eEtpJ7XdMaAuFgwtnL745JjtDzwqRkCdXquYvqFgcs130_assertion wasDerivedFrom befree-20150227 NP676943.RA3eEtpJ7XdMaAuFgwtnL745JjtDzwqRkCdXquYvqFgcs130_provenance.
- NP676943.RA3eEtpJ7XdMaAuFgwtnL745JjtDzwqRkCdXquYvqFgcs130_assertion wasGeneratedBy ECO_0000203 NP676943.RA3eEtpJ7XdMaAuFgwtnL745JjtDzwqRkCdXquYvqFgcs130_provenance.