Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP926947.RAxgpjRE5XVyyY3fgn4y8pVrqVgXgKwlCb8Rfcam_w194130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP926947.RAxgpjRE5XVyyY3fgn4y8pVrqVgXgKwlCb8Rfcam_w194130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP926947.RAxgpjRE5XVyyY3fgn4y8pVrqVgXgKwlCb8Rfcam_w194130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP926947.RAxgpjRE5XVyyY3fgn4y8pVrqVgXgKwlCb8Rfcam_w194130_provenance.
- NP926947.RAxgpjRE5XVyyY3fgn4y8pVrqVgXgKwlCb8Rfcam_w194130_assertion description "[In the ISS+ group, MLPA analysis detected four PAR1 deletions associated with a SHOX gene defect, PAR1 duplication with an ambiguous effect, and two SHOX mutations (13.7%).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP926947.RAxgpjRE5XVyyY3fgn4y8pVrqVgXgKwlCb8Rfcam_w194130_provenance.
- NP926947.RAxgpjRE5XVyyY3fgn4y8pVrqVgXgKwlCb8Rfcam_w194130_assertion evidence source_evidence_literature NP926947.RAxgpjRE5XVyyY3fgn4y8pVrqVgXgKwlCb8Rfcam_w194130_provenance.
- NP926947.RAxgpjRE5XVyyY3fgn4y8pVrqVgXgKwlCb8Rfcam_w194130_assertion SIO_000772 22020182 NP926947.RAxgpjRE5XVyyY3fgn4y8pVrqVgXgKwlCb8Rfcam_w194130_provenance.
- NP926947.RAxgpjRE5XVyyY3fgn4y8pVrqVgXgKwlCb8Rfcam_w194130_assertion wasDerivedFrom befree-20140225 NP926947.RAxgpjRE5XVyyY3fgn4y8pVrqVgXgKwlCb8Rfcam_w194130_provenance.
- NP926947.RAxgpjRE5XVyyY3fgn4y8pVrqVgXgKwlCb8Rfcam_w194130_assertion wasGeneratedBy ECO_0000203 NP926947.RAxgpjRE5XVyyY3fgn4y8pVrqVgXgKwlCb8Rfcam_w194130_provenance.
- befree-20140225 importedOn "2014-02-25" NP926947.RAxgpjRE5XVyyY3fgn4y8pVrqVgXgKwlCb8Rfcam_w194130_provenance.