Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP428294.RAkk2N04ul7hSjyDtcEL7q0rTNQZj4ClyMJVYoXMiCOMI130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP428294.RAkk2N04ul7hSjyDtcEL7q0rTNQZj4ClyMJVYoXMiCOMI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP428294.RAkk2N04ul7hSjyDtcEL7q0rTNQZj4ClyMJVYoXMiCOMI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP428294.RAkk2N04ul7hSjyDtcEL7q0rTNQZj4ClyMJVYoXMiCOMI130_provenance.
- befree-20150227 importedOn "2015-02-27" NP428294.RAkk2N04ul7hSjyDtcEL7q0rTNQZj4ClyMJVYoXMiCOMI130_provenance.
- NP428294.RAkk2N04ul7hSjyDtcEL7q0rTNQZj4ClyMJVYoXMiCOMI130_assertion wasGeneratedBy ECO_0000203 NP428294.RAkk2N04ul7hSjyDtcEL7q0rTNQZj4ClyMJVYoXMiCOMI130_provenance.
- NP428294.RAkk2N04ul7hSjyDtcEL7q0rTNQZj4ClyMJVYoXMiCOMI130_assertion wasDerivedFrom befree-20150227 NP428294.RAkk2N04ul7hSjyDtcEL7q0rTNQZj4ClyMJVYoXMiCOMI130_provenance.
- NP428294.RAkk2N04ul7hSjyDtcEL7q0rTNQZj4ClyMJVYoXMiCOMI130_assertion SIO_000772 20685856 NP428294.RAkk2N04ul7hSjyDtcEL7q0rTNQZj4ClyMJVYoXMiCOMI130_provenance.
- NP428294.RAkk2N04ul7hSjyDtcEL7q0rTNQZj4ClyMJVYoXMiCOMI130_assertion evidence source_evidence_literature NP428294.RAkk2N04ul7hSjyDtcEL7q0rTNQZj4ClyMJVYoXMiCOMI130_provenance.
- NP428294.RAkk2N04ul7hSjyDtcEL7q0rTNQZj4ClyMJVYoXMiCOMI130_assertion description "[We describe three novel heterozygous frameshift or nonsense GLI2 mutations, predicting truncated proteins lacking the activator domain, associated with IGHD or combined pituitary hormone deficiency and ectopic posterior pituitary lobe without HPE.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP428294.RAkk2N04ul7hSjyDtcEL7q0rTNQZj4ClyMJVYoXMiCOMI130_provenance.