Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1347181.RAMEUQud1_Wh1cztrLbFtQMopnNMcJYddGCP1W_z-RsmU#assertion> ?p ?o ?g. }
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- assertion description "[Mutations of the selenoprotein N gene (SEPN1) cause SEPN1-related myopathy (SEPN1-RM), a novel early-onset muscle disorder formerly divided into four different nosological categories.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 19557870 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.