Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP428301.RAkVpCUAiuGilEpJAL7RGYxsYS6YGtP1XlMNgAtOBT-nY130_assertion> ?p ?o ?g. }
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- NP428301.RAkVpCUAiuGilEpJAL7RGYxsYS6YGtP1XlMNgAtOBT-nY130_assertion type Assertion NP428301.RAkVpCUAiuGilEpJAL7RGYxsYS6YGtP1XlMNgAtOBT-nY130_head.
- 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.