Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP634078.RA3icVnuP29J4sm3VpsyAXFglZmzKtVVAHJJ2t6UBpTfs#assertion> ?p ?o ?g. }
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- 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." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 23278576 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.