Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP428301.RAkVpCUAiuGilEpJAL7RGYxsYS6YGtP1XlMNgAtOBT-nY130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP428301.RAkVpCUAiuGilEpJAL7RGYxsYS6YGtP1XlMNgAtOBT-nY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP428301.RAkVpCUAiuGilEpJAL7RGYxsYS6YGtP1XlMNgAtOBT-nY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP428301.RAkVpCUAiuGilEpJAL7RGYxsYS6YGtP1XlMNgAtOBT-nY130_provenance.
- NP428301.RAkVpCUAiuGilEpJAL7RGYxsYS6YGtP1XlMNgAtOBT-nY130_assertion description "[Here, we show that loss-of-function mutations in the human GLI2 gene are associated with a distinctive phenotype (within the HPE spectrum) whose primary features include defective anterior pituitary formation and pan-hypopituitarism, with or without overt forebrain cleavage abnormalities, and HPE-like midfacial hypoplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP428301.RAkVpCUAiuGilEpJAL7RGYxsYS6YGtP1XlMNgAtOBT-nY130_provenance.
- NP428301.RAkVpCUAiuGilEpJAL7RGYxsYS6YGtP1XlMNgAtOBT-nY130_assertion evidence source_evidence_literature NP428301.RAkVpCUAiuGilEpJAL7RGYxsYS6YGtP1XlMNgAtOBT-nY130_provenance.
- NP428301.RAkVpCUAiuGilEpJAL7RGYxsYS6YGtP1XlMNgAtOBT-nY130_assertion SIO_000772 14581620 NP428301.RAkVpCUAiuGilEpJAL7RGYxsYS6YGtP1XlMNgAtOBT-nY130_provenance.
- NP428301.RAkVpCUAiuGilEpJAL7RGYxsYS6YGtP1XlMNgAtOBT-nY130_assertion wasDerivedFrom befree-20150227 NP428301.RAkVpCUAiuGilEpJAL7RGYxsYS6YGtP1XlMNgAtOBT-nY130_provenance.
- NP428301.RAkVpCUAiuGilEpJAL7RGYxsYS6YGtP1XlMNgAtOBT-nY130_assertion wasGeneratedBy ECO_0000203 NP428301.RAkVpCUAiuGilEpJAL7RGYxsYS6YGtP1XlMNgAtOBT-nY130_provenance.
- befree-20150227 importedOn "2015-02-27" NP428301.RAkVpCUAiuGilEpJAL7RGYxsYS6YGtP1XlMNgAtOBT-nY130_provenance.