Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP193393.RARwLnfy-076lOOzt-c4R70_FNJMuFdmsswMZqxCvP9mk130_assertion> ?p ?o ?g. }
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- NP193393.RARwLnfy-076lOOzt-c4R70_FNJMuFdmsswMZqxCvP9mk130_assertion type Assertion NP193393.RARwLnfy-076lOOzt-c4R70_FNJMuFdmsswMZqxCvP9mk130_head.
- NP193393.RARwLnfy-076lOOzt-c4R70_FNJMuFdmsswMZqxCvP9mk130_assertion description "[A homozygous nucleotide change (G6395A) was found in 2 pts with Factor V deficiency/results in the replacement of an Arg by a His in position 2074, located in the Factor V C2-domain/in this domain have not previously been described.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP193393.RARwLnfy-076lOOzt-c4R70_FNJMuFdmsswMZqxCvP9mk130_provenance.
- NP193393.RARwLnfy-076lOOzt-c4R70_FNJMuFdmsswMZqxCvP9mk130_assertion evidence source_evidence_literature NP193393.RARwLnfy-076lOOzt-c4R70_FNJMuFdmsswMZqxCvP9mk130_provenance.
- NP193393.RARwLnfy-076lOOzt-c4R70_FNJMuFdmsswMZqxCvP9mk130_assertion SIO_000772 11858490 NP193393.RARwLnfy-076lOOzt-c4R70_FNJMuFdmsswMZqxCvP9mk130_provenance.
- NP193393.RARwLnfy-076lOOzt-c4R70_FNJMuFdmsswMZqxCvP9mk130_assertion wasDerivedFrom lhgdn-20090331 NP193393.RARwLnfy-076lOOzt-c4R70_FNJMuFdmsswMZqxCvP9mk130_provenance.
- NP193393.RARwLnfy-076lOOzt-c4R70_FNJMuFdmsswMZqxCvP9mk130_assertion wasGeneratedBy ECO_0000203 NP193393.RARwLnfy-076lOOzt-c4R70_FNJMuFdmsswMZqxCvP9mk130_provenance.