Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP550607.RAohDwuoUVrT3tjVgy0KercJkFcl98OJYuZLCS_SpZb00130_assertion> ?p ?o ?g. }
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- NP550607.RAohDwuoUVrT3tjVgy0KercJkFcl98OJYuZLCS_SpZb00130_assertion type Assertion NP550607.RAohDwuoUVrT3tjVgy0KercJkFcl98OJYuZLCS_SpZb00130_head.
- NP550607.RAohDwuoUVrT3tjVgy0KercJkFcl98OJYuZLCS_SpZb00130_assertion description "[The Ala4894Thr RyR1 variant was found in a Japanese patient with susceptibility to MH, and the Ala4894Pro variant in a rare case of myopathy: congenital neuromuscular disease with uniform type 1 fiber (CNMDU1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP550607.RAohDwuoUVrT3tjVgy0KercJkFcl98OJYuZLCS_SpZb00130_provenance.
- NP550607.RAohDwuoUVrT3tjVgy0KercJkFcl98OJYuZLCS_SpZb00130_assertion evidence source_evidence_literature NP550607.RAohDwuoUVrT3tjVgy0KercJkFcl98OJYuZLCS_SpZb00130_provenance.
- NP550607.RAohDwuoUVrT3tjVgy0KercJkFcl98OJYuZLCS_SpZb00130_assertion SIO_000772 21926372 NP550607.RAohDwuoUVrT3tjVgy0KercJkFcl98OJYuZLCS_SpZb00130_provenance.
- NP550607.RAohDwuoUVrT3tjVgy0KercJkFcl98OJYuZLCS_SpZb00130_assertion wasDerivedFrom befree-20140225 NP550607.RAohDwuoUVrT3tjVgy0KercJkFcl98OJYuZLCS_SpZb00130_provenance.
- NP550607.RAohDwuoUVrT3tjVgy0KercJkFcl98OJYuZLCS_SpZb00130_assertion wasGeneratedBy ECO_0000203 NP550607.RAohDwuoUVrT3tjVgy0KercJkFcl98OJYuZLCS_SpZb00130_provenance.