Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP143704.RA8NhrIy0KpMErN-PZ37rdi54SlCTJdAQt0SXOh23GSzM130_assertion> ?p ?o ?g. }
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- NP143704.RA8NhrIy0KpMErN-PZ37rdi54SlCTJdAQt0SXOh23GSzM130_assertion type Assertion NP143704.RA8NhrIy0KpMErN-PZ37rdi54SlCTJdAQt0SXOh23GSzM130_head.
- NP143704.RA8NhrIy0KpMErN-PZ37rdi54SlCTJdAQt0SXOh23GSzM130_assertion description "[The SCN5A mutation has a marked loss-of-function and unique phenotype of sick sinus syndrome, cardiac conduction disorder and ventricular tachycardia with incomplete penetrance.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP143704.RA8NhrIy0KpMErN-PZ37rdi54SlCTJdAQt0SXOh23GSzM130_provenance.
- NP143704.RA8NhrIy0KpMErN-PZ37rdi54SlCTJdAQt0SXOh23GSzM130_assertion evidence source_evidence_literature NP143704.RA8NhrIy0KpMErN-PZ37rdi54SlCTJdAQt0SXOh23GSzM130_provenance.
- NP143704.RA8NhrIy0KpMErN-PZ37rdi54SlCTJdAQt0SXOh23GSzM130_assertion SIO_000772 17897635 NP143704.RA8NhrIy0KpMErN-PZ37rdi54SlCTJdAQt0SXOh23GSzM130_provenance.
- NP143704.RA8NhrIy0KpMErN-PZ37rdi54SlCTJdAQt0SXOh23GSzM130_assertion wasDerivedFrom lhgdn-20090331 NP143704.RA8NhrIy0KpMErN-PZ37rdi54SlCTJdAQt0SXOh23GSzM130_provenance.
- NP143704.RA8NhrIy0KpMErN-PZ37rdi54SlCTJdAQt0SXOh23GSzM130_assertion wasGeneratedBy ECO_0000203 NP143704.RA8NhrIy0KpMErN-PZ37rdi54SlCTJdAQt0SXOh23GSzM130_provenance.