Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP4999.RA0XcwKtKnRSOb3l7D5vSXa989NeJbiUT4gm5AcbrkquQ130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP4999.RA0XcwKtKnRSOb3l7D5vSXa989NeJbiUT4gm5AcbrkquQ130_assertion type Assertion NP4999.RA0XcwKtKnRSOb3l7D5vSXa989NeJbiUT4gm5AcbrkquQ130_head.
- 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.