Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP4999.RA0XcwKtKnRSOb3l7D5vSXa989NeJbiUT4gm5AcbrkquQ130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP4999.RA0XcwKtKnRSOb3l7D5vSXa989NeJbiUT4gm5AcbrkquQ130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP4999.RA0XcwKtKnRSOb3l7D5vSXa989NeJbiUT4gm5AcbrkquQ130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP4999.RA0XcwKtKnRSOb3l7D5vSXa989NeJbiUT4gm5AcbrkquQ130_provenance.
- NP4999.RA0XcwKtKnRSOb3l7D5vSXa989NeJbiUT4gm5AcbrkquQ130_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." NP4999.RA0XcwKtKnRSOb3l7D5vSXa989NeJbiUT4gm5AcbrkquQ130_provenance.
- NP4999.RA0XcwKtKnRSOb3l7D5vSXa989NeJbiUT4gm5AcbrkquQ130_assertion evidence source_evidence_curated NP4999.RA0XcwKtKnRSOb3l7D5vSXa989NeJbiUT4gm5AcbrkquQ130_provenance.
- NP4999.RA0XcwKtKnRSOb3l7D5vSXa989NeJbiUT4gm5AcbrkquQ130_assertion SIO_000772 17527005 NP4999.RA0XcwKtKnRSOb3l7D5vSXa989NeJbiUT4gm5AcbrkquQ130_provenance.
- NP4999.RA0XcwKtKnRSOb3l7D5vSXa989NeJbiUT4gm5AcbrkquQ130_assertion wasDerivedFrom uniprot-2016 NP4999.RA0XcwKtKnRSOb3l7D5vSXa989NeJbiUT4gm5AcbrkquQ130_provenance.
- NP4999.RA0XcwKtKnRSOb3l7D5vSXa989NeJbiUT4gm5AcbrkquQ130_assertion wasGeneratedBy ECO_0000218 NP4999.RA0XcwKtKnRSOb3l7D5vSXa989NeJbiUT4gm5AcbrkquQ130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP4999.RA0XcwKtKnRSOb3l7D5vSXa989NeJbiUT4gm5AcbrkquQ130_provenance.