Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP791.RA1CNCRX3MZLIe38XHJhuO2EW8gU8HEVCTkichyRzrkfM130_assertion> ?p ?o ?g. }
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- NP791.RA1CNCRX3MZLIe38XHJhuO2EW8gU8HEVCTkichyRzrkfM130_assertion type Assertion NP791.RA1CNCRX3MZLIe38XHJhuO2EW8gU8HEVCTkichyRzrkfM130_head.
- NP791.RA1CNCRX3MZLIe38XHJhuO2EW8gU8HEVCTkichyRzrkfM130_assertion wasGeneratedBy ECO_0000218 NP791.RA1CNCRX3MZLIe38XHJhuO2EW8gU8HEVCTkichyRzrkfM130_provenance.
- NP791.RA1CNCRX3MZLIe38XHJhuO2EW8gU8HEVCTkichyRzrkfM130_assertion wasDerivedFrom uniprot-20150221 NP791.RA1CNCRX3MZLIe38XHJhuO2EW8gU8HEVCTkichyRzrkfM130_provenance.
- NP791.RA1CNCRX3MZLIe38XHJhuO2EW8gU8HEVCTkichyRzrkfM130_assertion SIO_000772 10978268 NP791.RA1CNCRX3MZLIe38XHJhuO2EW8gU8HEVCTkichyRzrkfM130_provenance.
- NP791.RA1CNCRX3MZLIe38XHJhuO2EW8gU8HEVCTkichyRzrkfM130_assertion evidence source_evidence_curated NP791.RA1CNCRX3MZLIe38XHJhuO2EW8gU8HEVCTkichyRzrkfM130_provenance.
- NP791.RA1CNCRX3MZLIe38XHJhuO2EW8gU8HEVCTkichyRzrkfM130_assertion description "[Clinical expression of familial hypercholesterolemia in clusters of mutations of the LDL receptor gene that cause a receptor-defective or receptor-negative phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP791.RA1CNCRX3MZLIe38XHJhuO2EW8gU8HEVCTkichyRzrkfM130_provenance.