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- source_evidence_literature type ECO_0000212 NP324247.RAU7AnOA1gUm39PwN1zRl8MbQQkfk3AgAIsElnMl_Jlvo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP324247.RAU7AnOA1gUm39PwN1zRl8MbQQkfk3AgAIsElnMl_Jlvo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP324247.RAU7AnOA1gUm39PwN1zRl8MbQQkfk3AgAIsElnMl_Jlvo130_provenance.
- NP324247.RAU7AnOA1gUm39PwN1zRl8MbQQkfk3AgAIsElnMl_Jlvo130_assertion description "[These results represent the first identification of a specific genetic defect in OI and the first disease linked to a coding alteration in a Na+/Cl(-)-dependent neurotransmitter transporter.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP324247.RAU7AnOA1gUm39PwN1zRl8MbQQkfk3AgAIsElnMl_Jlvo130_provenance.
- NP324247.RAU7AnOA1gUm39PwN1zRl8MbQQkfk3AgAIsElnMl_Jlvo130_assertion evidence source_evidence_literature NP324247.RAU7AnOA1gUm39PwN1zRl8MbQQkfk3AgAIsElnMl_Jlvo130_provenance.
- NP324247.RAU7AnOA1gUm39PwN1zRl8MbQQkfk3AgAIsElnMl_Jlvo130_assertion SIO_000772 11458707 NP324247.RAU7AnOA1gUm39PwN1zRl8MbQQkfk3AgAIsElnMl_Jlvo130_provenance.
- NP324247.RAU7AnOA1gUm39PwN1zRl8MbQQkfk3AgAIsElnMl_Jlvo130_assertion wasDerivedFrom befree-2016 NP324247.RAU7AnOA1gUm39PwN1zRl8MbQQkfk3AgAIsElnMl_Jlvo130_provenance.
- NP324247.RAU7AnOA1gUm39PwN1zRl8MbQQkfk3AgAIsElnMl_Jlvo130_assertion wasGeneratedBy ECO_0000203 NP324247.RAU7AnOA1gUm39PwN1zRl8MbQQkfk3AgAIsElnMl_Jlvo130_provenance.
- befree-2016 importedOn "2016-02-19" NP324247.RAU7AnOA1gUm39PwN1zRl8MbQQkfk3AgAIsElnMl_Jlvo130_provenance.