Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP23374.RA4XotCgp6FvWYUh_b31zRjuIWnOTFLK8L7xOBuwiYUvs130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP23374.RA4XotCgp6FvWYUh_b31zRjuIWnOTFLK8L7xOBuwiYUvs130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP23374.RA4XotCgp6FvWYUh_b31zRjuIWnOTFLK8L7xOBuwiYUvs130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP23374.RA4XotCgp6FvWYUh_b31zRjuIWnOTFLK8L7xOBuwiYUvs130_provenance.
- NP23374.RA4XotCgp6FvWYUh_b31zRjuIWnOTFLK8L7xOBuwiYUvs130_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." NP23374.RA4XotCgp6FvWYUh_b31zRjuIWnOTFLK8L7xOBuwiYUvs130_provenance.
- NP23374.RA4XotCgp6FvWYUh_b31zRjuIWnOTFLK8L7xOBuwiYUvs130_assertion evidence source_evidence_curated NP23374.RA4XotCgp6FvWYUh_b31zRjuIWnOTFLK8L7xOBuwiYUvs130_provenance.
- NP23374.RA4XotCgp6FvWYUh_b31zRjuIWnOTFLK8L7xOBuwiYUvs130_assertion SIO_000772 15111675 NP23374.RA4XotCgp6FvWYUh_b31zRjuIWnOTFLK8L7xOBuwiYUvs130_provenance.
- NP23374.RA4XotCgp6FvWYUh_b31zRjuIWnOTFLK8L7xOBuwiYUvs130_assertion wasDerivedFrom ctd_human-20150221 NP23374.RA4XotCgp6FvWYUh_b31zRjuIWnOTFLK8L7xOBuwiYUvs130_provenance.
- NP23374.RA4XotCgp6FvWYUh_b31zRjuIWnOTFLK8L7xOBuwiYUvs130_assertion wasGeneratedBy ECO_0000218 NP23374.RA4XotCgp6FvWYUh_b31zRjuIWnOTFLK8L7xOBuwiYUvs130_provenance.
- ctd_human-20150221 importedOn "2015-02-21" NP23374.RA4XotCgp6FvWYUh_b31zRjuIWnOTFLK8L7xOBuwiYUvs130_provenance.