Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP4372.RASvksl9y01sts9I7LAZ7YXeEIvQVlKcGnVrJ2SlqhEaM130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP4372.RASvksl9y01sts9I7LAZ7YXeEIvQVlKcGnVrJ2SlqhEaM130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP4372.RASvksl9y01sts9I7LAZ7YXeEIvQVlKcGnVrJ2SlqhEaM130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP4372.RASvksl9y01sts9I7LAZ7YXeEIvQVlKcGnVrJ2SlqhEaM130_provenance.
- NP4372.RASvksl9y01sts9I7LAZ7YXeEIvQVlKcGnVrJ2SlqhEaM130_assertion wasGeneratedBy ECO_0000218 NP4372.RASvksl9y01sts9I7LAZ7YXeEIvQVlKcGnVrJ2SlqhEaM130_provenance.
- NP4372.RASvksl9y01sts9I7LAZ7YXeEIvQVlKcGnVrJ2SlqhEaM130_assertion wasDerivedFrom uniprot-20130724 NP4372.RASvksl9y01sts9I7LAZ7YXeEIvQVlKcGnVrJ2SlqhEaM130_provenance.
- NP4372.RASvksl9y01sts9I7LAZ7YXeEIvQVlKcGnVrJ2SlqhEaM130_assertion SIO_000772 15111675 NP4372.RASvksl9y01sts9I7LAZ7YXeEIvQVlKcGnVrJ2SlqhEaM130_provenance.
- NP4372.RASvksl9y01sts9I7LAZ7YXeEIvQVlKcGnVrJ2SlqhEaM130_assertion evidence source_evidence_curated NP4372.RASvksl9y01sts9I7LAZ7YXeEIvQVlKcGnVrJ2SlqhEaM130_provenance.
- NP4372.RASvksl9y01sts9I7LAZ7YXeEIvQVlKcGnVrJ2SlqhEaM130_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." NP4372.RASvksl9y01sts9I7LAZ7YXeEIvQVlKcGnVrJ2SlqhEaM130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP4372.RASvksl9y01sts9I7LAZ7YXeEIvQVlKcGnVrJ2SlqhEaM130_provenance.