Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP3048.RAQrqJtb-zvv2veAG7WHYtZoUo1pGWOTGsQvB02Q2i0dA130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP3048.RAQrqJtb-zvv2veAG7WHYtZoUo1pGWOTGsQvB02Q2i0dA130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP3048.RAQrqJtb-zvv2veAG7WHYtZoUo1pGWOTGsQvB02Q2i0dA130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP3048.RAQrqJtb-zvv2veAG7WHYtZoUo1pGWOTGsQvB02Q2i0dA130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP3048.RAQrqJtb-zvv2veAG7WHYtZoUo1pGWOTGsQvB02Q2i0dA130_provenance.
- NP3048.RAQrqJtb-zvv2veAG7WHYtZoUo1pGWOTGsQvB02Q2i0dA130_assertion wasGeneratedBy ECO_0000218 NP3048.RAQrqJtb-zvv2veAG7WHYtZoUo1pGWOTGsQvB02Q2i0dA130_provenance.
- NP3048.RAQrqJtb-zvv2veAG7WHYtZoUo1pGWOTGsQvB02Q2i0dA130_assertion wasDerivedFrom uniprot-2016 NP3048.RAQrqJtb-zvv2veAG7WHYtZoUo1pGWOTGsQvB02Q2i0dA130_provenance.
- NP3048.RAQrqJtb-zvv2veAG7WHYtZoUo1pGWOTGsQvB02Q2i0dA130_assertion SIO_000772 14561704 NP3048.RAQrqJtb-zvv2veAG7WHYtZoUo1pGWOTGsQvB02Q2i0dA130_provenance.
- NP3048.RAQrqJtb-zvv2veAG7WHYtZoUo1pGWOTGsQvB02Q2i0dA130_assertion evidence source_evidence_curated NP3048.RAQrqJtb-zvv2veAG7WHYtZoUo1pGWOTGsQvB02Q2i0dA130_provenance.
- NP3048.RAQrqJtb-zvv2veAG7WHYtZoUo1pGWOTGsQvB02Q2i0dA130_assertion description "[A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3048.RAQrqJtb-zvv2veAG7WHYtZoUo1pGWOTGsQvB02Q2i0dA130_provenance.