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- source_evidence_literature type ECO_0000212 NP392311.RAQoI7BD8Jbbvlb-LEEBkLPW8_e1A-LAthx-DQ609nZ70130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP392311.RAQoI7BD8Jbbvlb-LEEBkLPW8_e1A-LAthx-DQ609nZ70130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP392311.RAQoI7BD8Jbbvlb-LEEBkLPW8_e1A-LAthx-DQ609nZ70130_provenance.
- NP392311.RAQoI7BD8Jbbvlb-LEEBkLPW8_e1A-LAthx-DQ609nZ70130_assertion description "[Nevertheless, the mutations p.Asp845Glu, p.Pro947Arg, p.Glu1057Lys, p.His1066Tyr, p.Arg1126Trp, p.Arg1329His, p.Leu1481Pro, and p.Ala1610Ser resulted in decreased FVIII:C values that may explain mild HA phenotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP392311.RAQoI7BD8Jbbvlb-LEEBkLPW8_e1A-LAthx-DQ609nZ70130_provenance.
- NP392311.RAQoI7BD8Jbbvlb-LEEBkLPW8_e1A-LAthx-DQ609nZ70130_assertion evidence source_evidence_literature NP392311.RAQoI7BD8Jbbvlb-LEEBkLPW8_e1A-LAthx-DQ609nZ70130_provenance.
- NP392311.RAQoI7BD8Jbbvlb-LEEBkLPW8_e1A-LAthx-DQ609nZ70130_assertion SIO_000772 24108539 NP392311.RAQoI7BD8Jbbvlb-LEEBkLPW8_e1A-LAthx-DQ609nZ70130_provenance.
- NP392311.RAQoI7BD8Jbbvlb-LEEBkLPW8_e1A-LAthx-DQ609nZ70130_assertion wasDerivedFrom befree-20150227 NP392311.RAQoI7BD8Jbbvlb-LEEBkLPW8_e1A-LAthx-DQ609nZ70130_provenance.
- NP392311.RAQoI7BD8Jbbvlb-LEEBkLPW8_e1A-LAthx-DQ609nZ70130_assertion wasGeneratedBy ECO_0000203 NP392311.RAQoI7BD8Jbbvlb-LEEBkLPW8_e1A-LAthx-DQ609nZ70130_provenance.
- befree-20150227 importedOn "2015-02-27" NP392311.RAQoI7BD8Jbbvlb-LEEBkLPW8_e1A-LAthx-DQ609nZ70130_provenance.