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- source_evidence_literature type ECO_0000212 NP884692.RAz9W3x4j9qquOFsy8EZZDUB2ijQdhJDk9Ec1Rx7_ZWos130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP884692.RAz9W3x4j9qquOFsy8EZZDUB2ijQdhJDk9Ec1Rx7_ZWos130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP884692.RAz9W3x4j9qquOFsy8EZZDUB2ijQdhJDk9Ec1Rx7_ZWos130_provenance.
- befree-20150227 importedOn "2015-02-27" NP884692.RAz9W3x4j9qquOFsy8EZZDUB2ijQdhJDk9Ec1Rx7_ZWos130_provenance.
- NP884692.RAz9W3x4j9qquOFsy8EZZDUB2ijQdhJDk9Ec1Rx7_ZWos130_assertion wasGeneratedBy ECO_0000203 NP884692.RAz9W3x4j9qquOFsy8EZZDUB2ijQdhJDk9Ec1Rx7_ZWos130_provenance.
- NP884692.RAz9W3x4j9qquOFsy8EZZDUB2ijQdhJDk9Ec1Rx7_ZWos130_assertion wasDerivedFrom befree-20150227 NP884692.RAz9W3x4j9qquOFsy8EZZDUB2ijQdhJDk9Ec1Rx7_ZWos130_provenance.
- NP884692.RAz9W3x4j9qquOFsy8EZZDUB2ijQdhJDk9Ec1Rx7_ZWos130_assertion SIO_000772 18371931 NP884692.RAz9W3x4j9qquOFsy8EZZDUB2ijQdhJDk9Ec1Rx7_ZWos130_provenance.
- NP884692.RAz9W3x4j9qquOFsy8EZZDUB2ijQdhJDk9Ec1Rx7_ZWos130_assertion evidence source_evidence_literature NP884692.RAz9W3x4j9qquOFsy8EZZDUB2ijQdhJDk9Ec1Rx7_ZWos130_provenance.
- NP884692.RAz9W3x4j9qquOFsy8EZZDUB2ijQdhJDk9Ec1Rx7_ZWos130_assertion description "[In humans, we show that NPHP3 mutations can cause a broad clinical spectrum of early embryonic patterning defects comprising situs inversus, polydactyly, central nervous system malformations, structural heart defects, preauricular fistulas, and a wide range of congenital anomalies of the kidney and urinary tract (CAKUT).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP884692.RAz9W3x4j9qquOFsy8EZZDUB2ijQdhJDk9Ec1Rx7_ZWos130_provenance.