Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP130836.RA3670Yb9oEJP7GAAjo-6MHMhPs0PH7XBpZgpg29vP2X4130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP130836.RA3670Yb9oEJP7GAAjo-6MHMhPs0PH7XBpZgpg29vP2X4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP130836.RA3670Yb9oEJP7GAAjo-6MHMhPs0PH7XBpZgpg29vP2X4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP130836.RA3670Yb9oEJP7GAAjo-6MHMhPs0PH7XBpZgpg29vP2X4130_provenance.
- NP130836.RA3670Yb9oEJP7GAAjo-6MHMhPs0PH7XBpZgpg29vP2X4130_assertion description "[identification of a novel CASR gene mutation established the basis of the hypercalcemia in an individual with familial hypocalciuric hypercalcemia (FHH) and his family; concomitant vitamin D deficiency modulates the severity of the presentation of FHH ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP130836.RA3670Yb9oEJP7GAAjo-6MHMhPs0PH7XBpZgpg29vP2X4130_provenance.
- NP130836.RA3670Yb9oEJP7GAAjo-6MHMhPs0PH7XBpZgpg29vP2X4130_assertion evidence source_evidence_literature NP130836.RA3670Yb9oEJP7GAAjo-6MHMhPs0PH7XBpZgpg29vP2X4130_provenance.
- NP130836.RA3670Yb9oEJP7GAAjo-6MHMhPs0PH7XBpZgpg29vP2X4130_assertion SIO_000772 17473068 NP130836.RA3670Yb9oEJP7GAAjo-6MHMhPs0PH7XBpZgpg29vP2X4130_provenance.
- NP130836.RA3670Yb9oEJP7GAAjo-6MHMhPs0PH7XBpZgpg29vP2X4130_assertion wasDerivedFrom lhgdn-20090331 NP130836.RA3670Yb9oEJP7GAAjo-6MHMhPs0PH7XBpZgpg29vP2X4130_provenance.
- NP130836.RA3670Yb9oEJP7GAAjo-6MHMhPs0PH7XBpZgpg29vP2X4130_assertion wasGeneratedBy ECO_0000203 NP130836.RA3670Yb9oEJP7GAAjo-6MHMhPs0PH7XBpZgpg29vP2X4130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP130836.RA3670Yb9oEJP7GAAjo-6MHMhPs0PH7XBpZgpg29vP2X4130_provenance.