Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP311252.RAS-kqXURmbbxzrKG3FqbFNFuKrw4GMaYsgJr53YmLxfs130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP311252.RAS-kqXURmbbxzrKG3FqbFNFuKrw4GMaYsgJr53YmLxfs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP311252.RAS-kqXURmbbxzrKG3FqbFNFuKrw4GMaYsgJr53YmLxfs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP311252.RAS-kqXURmbbxzrKG3FqbFNFuKrw4GMaYsgJr53YmLxfs130_provenance.
- NP311252.RAS-kqXURmbbxzrKG3FqbFNFuKrw4GMaYsgJr53YmLxfs130_assertion description "[Inherited mutations in the erythropoietin receptor (EPOR) causing premature termination of the receptor cytoplasmic region are associated with dominant familial erythrocytosis (FE), a benign clinical condition characterized by hypersensitivity of erythroid progenitor cells to EPO and low serum EPO (S-EPO) levels.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP311252.RAS-kqXURmbbxzrKG3FqbFNFuKrw4GMaYsgJr53YmLxfs130_provenance.
- NP311252.RAS-kqXURmbbxzrKG3FqbFNFuKrw4GMaYsgJr53YmLxfs130_assertion evidence source_evidence_literature NP311252.RAS-kqXURmbbxzrKG3FqbFNFuKrw4GMaYsgJr53YmLxfs130_provenance.
- NP311252.RAS-kqXURmbbxzrKG3FqbFNFuKrw4GMaYsgJr53YmLxfs130_assertion SIO_000772 10498627 NP311252.RAS-kqXURmbbxzrKG3FqbFNFuKrw4GMaYsgJr53YmLxfs130_provenance.
- NP311252.RAS-kqXURmbbxzrKG3FqbFNFuKrw4GMaYsgJr53YmLxfs130_assertion wasDerivedFrom befree-20140225 NP311252.RAS-kqXURmbbxzrKG3FqbFNFuKrw4GMaYsgJr53YmLxfs130_provenance.
- NP311252.RAS-kqXURmbbxzrKG3FqbFNFuKrw4GMaYsgJr53YmLxfs130_assertion wasGeneratedBy ECO_0000203 NP311252.RAS-kqXURmbbxzrKG3FqbFNFuKrw4GMaYsgJr53YmLxfs130_provenance.
- befree-20140225 importedOn "2014-02-25" NP311252.RAS-kqXURmbbxzrKG3FqbFNFuKrw4GMaYsgJr53YmLxfs130_provenance.