Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1175627.RAMI-8zOgdh_IHGDSuG-2PU-BZkCpKlXnhYapTUt5FjQQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1175627.RAMI-8zOgdh_IHGDSuG-2PU-BZkCpKlXnhYapTUt5FjQQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1175627.RAMI-8zOgdh_IHGDSuG-2PU-BZkCpKlXnhYapTUt5FjQQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1175627.RAMI-8zOgdh_IHGDSuG-2PU-BZkCpKlXnhYapTUt5FjQQ130_provenance.
- NP1175627.RAMI-8zOgdh_IHGDSuG-2PU-BZkCpKlXnhYapTUt5FjQQ130_assertion description "[The baby had no dysmorphic facial features and was diagnosed postmortem with Noonan syndrome by genomic DNA sequence analysis as he had a heterozygous mutation for G503R in the PTPN11 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1175627.RAMI-8zOgdh_IHGDSuG-2PU-BZkCpKlXnhYapTUt5FjQQ130_provenance.
- NP1175627.RAMI-8zOgdh_IHGDSuG-2PU-BZkCpKlXnhYapTUt5FjQQ130_assertion evidence source_evidence_literature NP1175627.RAMI-8zOgdh_IHGDSuG-2PU-BZkCpKlXnhYapTUt5FjQQ130_provenance.
- NP1175627.RAMI-8zOgdh_IHGDSuG-2PU-BZkCpKlXnhYapTUt5FjQQ130_assertion SIO_000772 24754368 NP1175627.RAMI-8zOgdh_IHGDSuG-2PU-BZkCpKlXnhYapTUt5FjQQ130_provenance.
- NP1175627.RAMI-8zOgdh_IHGDSuG-2PU-BZkCpKlXnhYapTUt5FjQQ130_assertion wasDerivedFrom befree-2016 NP1175627.RAMI-8zOgdh_IHGDSuG-2PU-BZkCpKlXnhYapTUt5FjQQ130_provenance.
- NP1175627.RAMI-8zOgdh_IHGDSuG-2PU-BZkCpKlXnhYapTUt5FjQQ130_assertion wasGeneratedBy ECO_0000203 NP1175627.RAMI-8zOgdh_IHGDSuG-2PU-BZkCpKlXnhYapTUt5FjQQ130_provenance.
- befree-2016 importedOn "2016-02-19" NP1175627.RAMI-8zOgdh_IHGDSuG-2PU-BZkCpKlXnhYapTUt5FjQQ130_provenance.