Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP110146.RAh0fpI2cyMVAmJ59E39iVZ2ud5p5GdOE0fkzsVWo0eO8130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP110146.RAh0fpI2cyMVAmJ59E39iVZ2ud5p5GdOE0fkzsVWo0eO8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP110146.RAh0fpI2cyMVAmJ59E39iVZ2ud5p5GdOE0fkzsVWo0eO8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP110146.RAh0fpI2cyMVAmJ59E39iVZ2ud5p5GdOE0fkzsVWo0eO8130_provenance.
- NP110146.RAh0fpI2cyMVAmJ59E39iVZ2ud5p5GdOE0fkzsVWo0eO8130_assertion description "[The present data add 19 novel mutations to the catalog of inactivating CASR mutations and illustrate a variety of biochemical phenotypes in patients with the molecular genetic diagnosis FHH.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP110146.RAh0fpI2cyMVAmJ59E39iVZ2ud5p5GdOE0fkzsVWo0eO8130_provenance.
- NP110146.RAh0fpI2cyMVAmJ59E39iVZ2ud5p5GdOE0fkzsVWo0eO8130_assertion evidence source_evidence_literature NP110146.RAh0fpI2cyMVAmJ59E39iVZ2ud5p5GdOE0fkzsVWo0eO8130_provenance.
- NP110146.RAh0fpI2cyMVAmJ59E39iVZ2ud5p5GdOE0fkzsVWo0eO8130_assertion SIO_000772 17698911 NP110146.RAh0fpI2cyMVAmJ59E39iVZ2ud5p5GdOE0fkzsVWo0eO8130_provenance.
- NP110146.RAh0fpI2cyMVAmJ59E39iVZ2ud5p5GdOE0fkzsVWo0eO8130_assertion wasDerivedFrom gad-20150221 NP110146.RAh0fpI2cyMVAmJ59E39iVZ2ud5p5GdOE0fkzsVWo0eO8130_provenance.
- NP110146.RAh0fpI2cyMVAmJ59E39iVZ2ud5p5GdOE0fkzsVWo0eO8130_assertion wasGeneratedBy ECO_0000203 NP110146.RAh0fpI2cyMVAmJ59E39iVZ2ud5p5GdOE0fkzsVWo0eO8130_provenance.
- gad-20150221 importedOn "2015-02-21" NP110146.RAh0fpI2cyMVAmJ59E39iVZ2ud5p5GdOE0fkzsVWo0eO8130_provenance.