Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP975753.RAAxclTjFZxWaES0WSKWX8L3drOd-p0MBaRONf69NU5C0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP975753.RAAxclTjFZxWaES0WSKWX8L3drOd-p0MBaRONf69NU5C0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP975753.RAAxclTjFZxWaES0WSKWX8L3drOd-p0MBaRONf69NU5C0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP975753.RAAxclTjFZxWaES0WSKWX8L3drOd-p0MBaRONf69NU5C0130_provenance.
- befree-2016 importedOn "2016-02-19" NP975753.RAAxclTjFZxWaES0WSKWX8L3drOd-p0MBaRONf69NU5C0130_provenance.
- NP975753.RAAxclTjFZxWaES0WSKWX8L3drOd-p0MBaRONf69NU5C0130_assertion wasGeneratedBy ECO_0000203 NP975753.RAAxclTjFZxWaES0WSKWX8L3drOd-p0MBaRONf69NU5C0130_provenance.
- NP975753.RAAxclTjFZxWaES0WSKWX8L3drOd-p0MBaRONf69NU5C0130_assertion wasDerivedFrom befree-2016 NP975753.RAAxclTjFZxWaES0WSKWX8L3drOd-p0MBaRONf69NU5C0130_provenance.
- NP975753.RAAxclTjFZxWaES0WSKWX8L3drOd-p0MBaRONf69NU5C0130_assertion SIO_000772 22512561 NP975753.RAAxclTjFZxWaES0WSKWX8L3drOd-p0MBaRONf69NU5C0130_provenance.
- NP975753.RAAxclTjFZxWaES0WSKWX8L3drOd-p0MBaRONf69NU5C0130_assertion evidence source_evidence_literature NP975753.RAAxclTjFZxWaES0WSKWX8L3drOd-p0MBaRONf69NU5C0130_provenance.
- NP975753.RAAxclTjFZxWaES0WSKWX8L3drOd-p0MBaRONf69NU5C0130_assertion description "[Finally, mutations in the Ptpn11 gene (encoding SHP-2) underlie the developmental disorders Noonan syndrome and Leopard syndrome characterized by congenital heart disease and hematologic abnormalities.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP975753.RAAxclTjFZxWaES0WSKWX8L3drOd-p0MBaRONf69NU5C0130_provenance.