Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP516716.RA2SVpUVR24X-i4pP_75d8qdDQVDHIoXEX4aeHPBFY4pI130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP516716.RA2SVpUVR24X-i4pP_75d8qdDQVDHIoXEX4aeHPBFY4pI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP516716.RA2SVpUVR24X-i4pP_75d8qdDQVDHIoXEX4aeHPBFY4pI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP516716.RA2SVpUVR24X-i4pP_75d8qdDQVDHIoXEX4aeHPBFY4pI130_provenance.
- NP516716.RA2SVpUVR24X-i4pP_75d8qdDQVDHIoXEX4aeHPBFY4pI130_assertion description "[A novel missense mutation (P366T) of the LHX4 gene causes severe combined pituitary hormone deficiency with pituitary hypoplasia, ectopic posterior lobe and a poorly developed sella turcica.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP516716.RA2SVpUVR24X-i4pP_75d8qdDQVDHIoXEX4aeHPBFY4pI130_provenance.
- NP516716.RA2SVpUVR24X-i4pP_75d8qdDQVDHIoXEX4aeHPBFY4pI130_assertion evidence source_evidence_literature NP516716.RA2SVpUVR24X-i4pP_75d8qdDQVDHIoXEX4aeHPBFY4pI130_provenance.
- NP516716.RA2SVpUVR24X-i4pP_75d8qdDQVDHIoXEX4aeHPBFY4pI130_assertion SIO_000772 17527005 NP516716.RA2SVpUVR24X-i4pP_75d8qdDQVDHIoXEX4aeHPBFY4pI130_provenance.
- NP516716.RA2SVpUVR24X-i4pP_75d8qdDQVDHIoXEX4aeHPBFY4pI130_assertion wasDerivedFrom befree-20140225 NP516716.RA2SVpUVR24X-i4pP_75d8qdDQVDHIoXEX4aeHPBFY4pI130_provenance.
- NP516716.RA2SVpUVR24X-i4pP_75d8qdDQVDHIoXEX4aeHPBFY4pI130_assertion wasGeneratedBy ECO_0000203 NP516716.RA2SVpUVR24X-i4pP_75d8qdDQVDHIoXEX4aeHPBFY4pI130_provenance.
- befree-20140225 importedOn "2014-02-25" NP516716.RA2SVpUVR24X-i4pP_75d8qdDQVDHIoXEX4aeHPBFY4pI130_provenance.