Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP711158.RABSgYnDAl576zaneOszcnHPPCPAprxqg_pzr8F1P9OtM130_assertion> ?p ?o ?g. }
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- NP711158.RABSgYnDAl576zaneOszcnHPPCPAprxqg_pzr8F1P9OtM130_assertion type Assertion NP711158.RABSgYnDAl576zaneOszcnHPPCPAprxqg_pzr8F1P9OtM130_head.
- NP711158.RABSgYnDAl576zaneOszcnHPPCPAprxqg_pzr8F1P9OtM130_assertion description "[Human mutations in COLQ, LAMB2, and AGRN cause congenital myasthenic syndromes (CMSs) owing to deficiency of ColQ, laminin-?2, and agrin, respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP711158.RABSgYnDAl576zaneOszcnHPPCPAprxqg_pzr8F1P9OtM130_provenance.
- NP711158.RABSgYnDAl576zaneOszcnHPPCPAprxqg_pzr8F1P9OtM130_assertion evidence source_evidence_literature NP711158.RABSgYnDAl576zaneOszcnHPPCPAprxqg_pzr8F1P9OtM130_provenance.
- NP711158.RABSgYnDAl576zaneOszcnHPPCPAprxqg_pzr8F1P9OtM130_assertion SIO_000772 23278576 NP711158.RABSgYnDAl576zaneOszcnHPPCPAprxqg_pzr8F1P9OtM130_provenance.
- NP711158.RABSgYnDAl576zaneOszcnHPPCPAprxqg_pzr8F1P9OtM130_assertion wasDerivedFrom befree-20140225 NP711158.RABSgYnDAl576zaneOszcnHPPCPAprxqg_pzr8F1P9OtM130_provenance.
- NP711158.RABSgYnDAl576zaneOszcnHPPCPAprxqg_pzr8F1P9OtM130_assertion wasGeneratedBy ECO_0000203 NP711158.RABSgYnDAl576zaneOszcnHPPCPAprxqg_pzr8F1P9OtM130_provenance.