Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP783250.RA__iWWXwCF7HMvgiGSnwS7VKS1HahZigC9LC086WFtN8130_assertion> ?p ?o ?g. }
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- NP783250.RA__iWWXwCF7HMvgiGSnwS7VKS1HahZigC9LC086WFtN8130_assertion type Assertion NP783250.RA__iWWXwCF7HMvgiGSnwS7VKS1HahZigC9LC086WFtN8130_head.
- NP783250.RA__iWWXwCF7HMvgiGSnwS7VKS1HahZigC9LC086WFtN8130_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." NP783250.RA__iWWXwCF7HMvgiGSnwS7VKS1HahZigC9LC086WFtN8130_provenance.
- NP783250.RA__iWWXwCF7HMvgiGSnwS7VKS1HahZigC9LC086WFtN8130_assertion evidence source_evidence_literature NP783250.RA__iWWXwCF7HMvgiGSnwS7VKS1HahZigC9LC086WFtN8130_provenance.
- NP783250.RA__iWWXwCF7HMvgiGSnwS7VKS1HahZigC9LC086WFtN8130_assertion SIO_000772 23278576 NP783250.RA__iWWXwCF7HMvgiGSnwS7VKS1HahZigC9LC086WFtN8130_provenance.
- NP783250.RA__iWWXwCF7HMvgiGSnwS7VKS1HahZigC9LC086WFtN8130_assertion wasDerivedFrom befree-20140225 NP783250.RA__iWWXwCF7HMvgiGSnwS7VKS1HahZigC9LC086WFtN8130_provenance.
- NP783250.RA__iWWXwCF7HMvgiGSnwS7VKS1HahZigC9LC086WFtN8130_assertion wasGeneratedBy ECO_0000203 NP783250.RA__iWWXwCF7HMvgiGSnwS7VKS1HahZigC9LC086WFtN8130_provenance.