Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP417033.RAL4TIjMIfVDY1ObvN7wwYfWyO_mAnG6hIq1d8G5KhsoM130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP417033.RAL4TIjMIfVDY1ObvN7wwYfWyO_mAnG6hIq1d8G5KhsoM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP417033.RAL4TIjMIfVDY1ObvN7wwYfWyO_mAnG6hIq1d8G5KhsoM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP417033.RAL4TIjMIfVDY1ObvN7wwYfWyO_mAnG6hIq1d8G5KhsoM130_provenance.
- befree-2016 importedOn "2016-02-19" NP417033.RAL4TIjMIfVDY1ObvN7wwYfWyO_mAnG6hIq1d8G5KhsoM130_provenance.
- NP417033.RAL4TIjMIfVDY1ObvN7wwYfWyO_mAnG6hIq1d8G5KhsoM130_assertion wasGeneratedBy ECO_0000203 NP417033.RAL4TIjMIfVDY1ObvN7wwYfWyO_mAnG6hIq1d8G5KhsoM130_provenance.
- NP417033.RAL4TIjMIfVDY1ObvN7wwYfWyO_mAnG6hIq1d8G5KhsoM130_assertion wasDerivedFrom befree-2016 NP417033.RAL4TIjMIfVDY1ObvN7wwYfWyO_mAnG6hIq1d8G5KhsoM130_provenance.
- NP417033.RAL4TIjMIfVDY1ObvN7wwYfWyO_mAnG6hIq1d8G5KhsoM130_assertion SIO_000772 14561704 NP417033.RAL4TIjMIfVDY1ObvN7wwYfWyO_mAnG6hIq1d8G5KhsoM130_provenance.
- NP417033.RAL4TIjMIfVDY1ObvN7wwYfWyO_mAnG6hIq1d8G5KhsoM130_assertion evidence source_evidence_literature NP417033.RAL4TIjMIfVDY1ObvN7wwYfWyO_mAnG6hIq1d8G5KhsoM130_provenance.
- NP417033.RAL4TIjMIfVDY1ObvN7wwYfWyO_mAnG6hIq1d8G5KhsoM130_assertion description "[We identified a novel homozygous nonconservative missense mutation (I26T) in the critical Engrailed homology repressor domain (eh1) of HESX1, the first, to our knowledge, to be described in humans, in a girl with evolving combined pituitary hormone deficiency born to consanguineous parents.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP417033.RAL4TIjMIfVDY1ObvN7wwYfWyO_mAnG6hIq1d8G5KhsoM130_provenance.