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- source_evidence_literature type ECO_0000212 NP780984.RAQB5rnWe4EZKWHAqnqMh_T8wdp3vMe01k9Xa8xilcZKc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP780984.RAQB5rnWe4EZKWHAqnqMh_T8wdp3vMe01k9Xa8xilcZKc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP780984.RAQB5rnWe4EZKWHAqnqMh_T8wdp3vMe01k9Xa8xilcZKc130_provenance.
- NP780984.RAQB5rnWe4EZKWHAqnqMh_T8wdp3vMe01k9Xa8xilcZKc130_assertion description "[This is the first pathogenic missense mutation reported in CDH3 and the second mutation found to underlie hypotrichosis with juvenile macular dystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP780984.RAQB5rnWe4EZKWHAqnqMh_T8wdp3vMe01k9Xa8xilcZKc130_provenance.
- NP780984.RAQB5rnWe4EZKWHAqnqMh_T8wdp3vMe01k9Xa8xilcZKc130_assertion evidence source_evidence_literature NP780984.RAQB5rnWe4EZKWHAqnqMh_T8wdp3vMe01k9Xa8xilcZKc130_provenance.
- NP780984.RAQB5rnWe4EZKWHAqnqMh_T8wdp3vMe01k9Xa8xilcZKc130_assertion SIO_000772 12445216 NP780984.RAQB5rnWe4EZKWHAqnqMh_T8wdp3vMe01k9Xa8xilcZKc130_provenance.
- NP780984.RAQB5rnWe4EZKWHAqnqMh_T8wdp3vMe01k9Xa8xilcZKc130_assertion wasDerivedFrom befree-20140225 NP780984.RAQB5rnWe4EZKWHAqnqMh_T8wdp3vMe01k9Xa8xilcZKc130_provenance.
- NP780984.RAQB5rnWe4EZKWHAqnqMh_T8wdp3vMe01k9Xa8xilcZKc130_assertion wasGeneratedBy ECO_0000203 NP780984.RAQB5rnWe4EZKWHAqnqMh_T8wdp3vMe01k9Xa8xilcZKc130_provenance.
- befree-20140225 importedOn "2014-02-25" NP780984.RAQB5rnWe4EZKWHAqnqMh_T8wdp3vMe01k9Xa8xilcZKc130_provenance.