Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP676143.RANftnuHqcipzznIhrB3w4S3TlDXxi1fgjeVE7xawSDx4130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP676143.RANftnuHqcipzznIhrB3w4S3TlDXxi1fgjeVE7xawSDx4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP676143.RANftnuHqcipzznIhrB3w4S3TlDXxi1fgjeVE7xawSDx4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP676143.RANftnuHqcipzznIhrB3w4S3TlDXxi1fgjeVE7xawSDx4130_provenance.
- NP676143.RANftnuHqcipzznIhrB3w4S3TlDXxi1fgjeVE7xawSDx4130_assertion description "[A G to A transition at nucleotide 31,119 changes codon 333 which is for Arg (CGA) in normal factor IX, to one for Gln (CAA) in the variant previously described as factor IXLondon2 (Tsang T C et al., EMBO J 1988; 7: 3009) in a patient with moderately severe hemophilia B.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP676143.RANftnuHqcipzznIhrB3w4S3TlDXxi1fgjeVE7xawSDx4130_provenance.
- NP676143.RANftnuHqcipzznIhrB3w4S3TlDXxi1fgjeVE7xawSDx4130_assertion evidence source_evidence_literature NP676143.RANftnuHqcipzznIhrB3w4S3TlDXxi1fgjeVE7xawSDx4130_provenance.
- NP676143.RANftnuHqcipzznIhrB3w4S3TlDXxi1fgjeVE7xawSDx4130_assertion SIO_000772 2270538 NP676143.RANftnuHqcipzznIhrB3w4S3TlDXxi1fgjeVE7xawSDx4130_provenance.
- NP676143.RANftnuHqcipzznIhrB3w4S3TlDXxi1fgjeVE7xawSDx4130_assertion wasDerivedFrom befree-20140225 NP676143.RANftnuHqcipzznIhrB3w4S3TlDXxi1fgjeVE7xawSDx4130_provenance.
- NP676143.RANftnuHqcipzznIhrB3w4S3TlDXxi1fgjeVE7xawSDx4130_assertion wasGeneratedBy ECO_0000203 NP676143.RANftnuHqcipzznIhrB3w4S3TlDXxi1fgjeVE7xawSDx4130_provenance.
- befree-20140225 importedOn "2014-02-25" NP676143.RANftnuHqcipzznIhrB3w4S3TlDXxi1fgjeVE7xawSDx4130_provenance.