Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP20366.RAyFlRE4xl7ek0WTT0wr7vPy5v_jjydwpjM8C-XxCzKXI130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP20366.RAyFlRE4xl7ek0WTT0wr7vPy5v_jjydwpjM8C-XxCzKXI130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP20366.RAyFlRE4xl7ek0WTT0wr7vPy5v_jjydwpjM8C-XxCzKXI130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP20366.RAyFlRE4xl7ek0WTT0wr7vPy5v_jjydwpjM8C-XxCzKXI130_provenance.
- NP20366.RAyFlRE4xl7ek0WTT0wr7vPy5v_jjydwpjM8C-XxCzKXI130_assertion description "[We report on a 13-year-old girl with Donohue syndrome like dysmorphism, hyperinsulinism and prolonged survival due to two novel INSR missense mutations within the insulin binding domain.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP20366.RAyFlRE4xl7ek0WTT0wr7vPy5v_jjydwpjM8C-XxCzKXI130_provenance.
- NP20366.RAyFlRE4xl7ek0WTT0wr7vPy5v_jjydwpjM8C-XxCzKXI130_assertion evidence source_evidence_curated NP20366.RAyFlRE4xl7ek0WTT0wr7vPy5v_jjydwpjM8C-XxCzKXI130_provenance.
- NP20366.RAyFlRE4xl7ek0WTT0wr7vPy5v_jjydwpjM8C-XxCzKXI130_assertion SIO_000772 18411068 NP20366.RAyFlRE4xl7ek0WTT0wr7vPy5v_jjydwpjM8C-XxCzKXI130_provenance.
- NP20366.RAyFlRE4xl7ek0WTT0wr7vPy5v_jjydwpjM8C-XxCzKXI130_assertion wasDerivedFrom ctd_human-20130708 NP20366.RAyFlRE4xl7ek0WTT0wr7vPy5v_jjydwpjM8C-XxCzKXI130_provenance.
- NP20366.RAyFlRE4xl7ek0WTT0wr7vPy5v_jjydwpjM8C-XxCzKXI130_assertion wasGeneratedBy ECO_0000218 NP20366.RAyFlRE4xl7ek0WTT0wr7vPy5v_jjydwpjM8C-XxCzKXI130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP20366.RAyFlRE4xl7ek0WTT0wr7vPy5v_jjydwpjM8C-XxCzKXI130_provenance.