Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1188574.RAmad069JXwp4AdBjK1xg7ApdzYEScRi_gRnGNyINsies#provenance>. }
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- source_evidence_curated type ECO_0000205 provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." provenance.
- assertion description "[1) Mutations in myotilin cause MFM; 2) exon 2 of MYOT is a hotspot for mutations; 3) peripheral neuropathy, cardiomyopathy, and distal weakness greater than proximal weakness are part of the spectrum of myotilinopathy; 4) not all cases of myotilinopathy have a limb-girdle phenotype; and 5) the molecular basis of the majority of MFM cases remains to be discovered.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_curated provenance.
- assertion SIO_000772 15111675 provenance.
- assertion wasDerivedFrom CTD_human provenance.
- assertion wasGeneratedBy ECO_0000218 provenance.
- CTD_human importedOn "2017-01-25" provenance.