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- source_evidence_literature type ECO_0000212 NP587750.RAahsyn2U5nC1_5Q1Gr6774kPCks-yrDck8SIKDzubQSE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP587750.RAahsyn2U5nC1_5Q1Gr6774kPCks-yrDck8SIKDzubQSE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP587750.RAahsyn2U5nC1_5Q1Gr6774kPCks-yrDck8SIKDzubQSE130_provenance.
- NP587750.RAahsyn2U5nC1_5Q1Gr6774kPCks-yrDck8SIKDzubQSE130_assertion description "[SF-1/NR5A1 mutations are frequently found in 46,XY DSD individuals (9%) and manifest with a broad phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP587750.RAahsyn2U5nC1_5Q1Gr6774kPCks-yrDck8SIKDzubQSE130_provenance.
- NP587750.RAahsyn2U5nC1_5Q1Gr6774kPCks-yrDck8SIKDzubQSE130_assertion evidence source_evidence_literature NP587750.RAahsyn2U5nC1_5Q1Gr6774kPCks-yrDck8SIKDzubQSE130_provenance.
- NP587750.RAahsyn2U5nC1_5Q1Gr6774kPCks-yrDck8SIKDzubQSE130_assertion SIO_000772 22549935 NP587750.RAahsyn2U5nC1_5Q1Gr6774kPCks-yrDck8SIKDzubQSE130_provenance.
- NP587750.RAahsyn2U5nC1_5Q1Gr6774kPCks-yrDck8SIKDzubQSE130_assertion wasDerivedFrom befree-20140225 NP587750.RAahsyn2U5nC1_5Q1Gr6774kPCks-yrDck8SIKDzubQSE130_provenance.
- NP587750.RAahsyn2U5nC1_5Q1Gr6774kPCks-yrDck8SIKDzubQSE130_assertion wasGeneratedBy ECO_0000203 NP587750.RAahsyn2U5nC1_5Q1Gr6774kPCks-yrDck8SIKDzubQSE130_provenance.
- befree-20140225 importedOn "2014-02-25" NP587750.RAahsyn2U5nC1_5Q1Gr6774kPCks-yrDck8SIKDzubQSE130_provenance.