Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP3809.RAe5zycuJzn1PARqzhCrut3T53XmWvYj3GBTEO6QHX3bo130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP3809.RAe5zycuJzn1PARqzhCrut3T53XmWvYj3GBTEO6QHX3bo130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP3809.RAe5zycuJzn1PARqzhCrut3T53XmWvYj3GBTEO6QHX3bo130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP3809.RAe5zycuJzn1PARqzhCrut3T53XmWvYj3GBTEO6QHX3bo130_provenance.
- NP3809.RAe5zycuJzn1PARqzhCrut3T53XmWvYj3GBTEO6QHX3bo130_assertion wasGeneratedBy ECO_0000218 NP3809.RAe5zycuJzn1PARqzhCrut3T53XmWvYj3GBTEO6QHX3bo130_provenance.
- NP3809.RAe5zycuJzn1PARqzhCrut3T53XmWvYj3GBTEO6QHX3bo130_assertion wasDerivedFrom uniprot-20130724 NP3809.RAe5zycuJzn1PARqzhCrut3T53XmWvYj3GBTEO6QHX3bo130_provenance.
- NP3809.RAe5zycuJzn1PARqzhCrut3T53XmWvYj3GBTEO6QHX3bo130_assertion SIO_000772 11792809 NP3809.RAe5zycuJzn1PARqzhCrut3T53XmWvYj3GBTEO6QHX3bo130_provenance.
- NP3809.RAe5zycuJzn1PARqzhCrut3T53XmWvYj3GBTEO6QHX3bo130_assertion evidence source_evidence_curated NP3809.RAe5zycuJzn1PARqzhCrut3T53XmWvYj3GBTEO6QHX3bo130_provenance.
- NP3809.RAe5zycuJzn1PARqzhCrut3T53XmWvYj3GBTEO6QHX3bo130_assertion description "[Autosomal dominant Emery-Dreifuss muscular dystrophy is caused by mutations in the LMNA gene, which encodes lamin A and lamin C. Mutations in this gene also give rise to limb girdle muscular dystrophy type 1B, dilated cardiomyopathy with atrioventricular conduction defect and Dunnigan-type partial lipodystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3809.RAe5zycuJzn1PARqzhCrut3T53XmWvYj3GBTEO6QHX3bo130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP3809.RAe5zycuJzn1PARqzhCrut3T53XmWvYj3GBTEO6QHX3bo130_provenance.