Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP505229.RA8yEetDiGE7nxKLqaD5xu_zdILSQu_ehtU5TkxEEdbSo130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP505229.RA8yEetDiGE7nxKLqaD5xu_zdILSQu_ehtU5TkxEEdbSo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP505229.RA8yEetDiGE7nxKLqaD5xu_zdILSQu_ehtU5TkxEEdbSo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP505229.RA8yEetDiGE7nxKLqaD5xu_zdILSQu_ehtU5TkxEEdbSo130_provenance.
- NP505229.RA8yEetDiGE7nxKLqaD5xu_zdILSQu_ehtU5TkxEEdbSo130_assertion description "[Through exome sequencing we identified compound heterozygous mutations in WDR19 in a Norwegian family with Sensenbrenner syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP505229.RA8yEetDiGE7nxKLqaD5xu_zdILSQu_ehtU5TkxEEdbSo130_provenance.
- NP505229.RA8yEetDiGE7nxKLqaD5xu_zdILSQu_ehtU5TkxEEdbSo130_assertion evidence source_evidence_literature NP505229.RA8yEetDiGE7nxKLqaD5xu_zdILSQu_ehtU5TkxEEdbSo130_provenance.
- NP505229.RA8yEetDiGE7nxKLqaD5xu_zdILSQu_ehtU5TkxEEdbSo130_assertion SIO_000772 22019273 NP505229.RA8yEetDiGE7nxKLqaD5xu_zdILSQu_ehtU5TkxEEdbSo130_provenance.
- NP505229.RA8yEetDiGE7nxKLqaD5xu_zdILSQu_ehtU5TkxEEdbSo130_assertion wasDerivedFrom befree-20140225 NP505229.RA8yEetDiGE7nxKLqaD5xu_zdILSQu_ehtU5TkxEEdbSo130_provenance.
- NP505229.RA8yEetDiGE7nxKLqaD5xu_zdILSQu_ehtU5TkxEEdbSo130_assertion wasGeneratedBy ECO_0000203 NP505229.RA8yEetDiGE7nxKLqaD5xu_zdILSQu_ehtU5TkxEEdbSo130_provenance.
- befree-20140225 importedOn "2014-02-25" NP505229.RA8yEetDiGE7nxKLqaD5xu_zdILSQu_ehtU5TkxEEdbSo130_provenance.