Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1008.RAsdm6rLxvGo47Exjb6jqU8NkO5_rHmawFLEmDjez_rqo130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP1008.RAsdm6rLxvGo47Exjb6jqU8NkO5_rHmawFLEmDjez_rqo130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP1008.RAsdm6rLxvGo47Exjb6jqU8NkO5_rHmawFLEmDjez_rqo130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP1008.RAsdm6rLxvGo47Exjb6jqU8NkO5_rHmawFLEmDjez_rqo130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP1008.RAsdm6rLxvGo47Exjb6jqU8NkO5_rHmawFLEmDjez_rqo130_provenance.
- NP1008.RAsdm6rLxvGo47Exjb6jqU8NkO5_rHmawFLEmDjez_rqo130_assertion wasGeneratedBy ECO_0000218 NP1008.RAsdm6rLxvGo47Exjb6jqU8NkO5_rHmawFLEmDjez_rqo130_provenance.
- NP1008.RAsdm6rLxvGo47Exjb6jqU8NkO5_rHmawFLEmDjez_rqo130_assertion wasDerivedFrom uniprot-2016 NP1008.RAsdm6rLxvGo47Exjb6jqU8NkO5_rHmawFLEmDjez_rqo130_provenance.
- NP1008.RAsdm6rLxvGo47Exjb6jqU8NkO5_rHmawFLEmDjez_rqo130_assertion SIO_000772 10978268 NP1008.RAsdm6rLxvGo47Exjb6jqU8NkO5_rHmawFLEmDjez_rqo130_provenance.
- NP1008.RAsdm6rLxvGo47Exjb6jqU8NkO5_rHmawFLEmDjez_rqo130_assertion evidence source_evidence_curated NP1008.RAsdm6rLxvGo47Exjb6jqU8NkO5_rHmawFLEmDjez_rqo130_provenance.
- NP1008.RAsdm6rLxvGo47Exjb6jqU8NkO5_rHmawFLEmDjez_rqo130_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." NP1008.RAsdm6rLxvGo47Exjb6jqU8NkO5_rHmawFLEmDjez_rqo130_provenance.