Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP540788.RAF2xdBVe1IirhE-brIdtliiBE71KFxmX6dmGgUWTPxKw130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP540788.RAF2xdBVe1IirhE-brIdtliiBE71KFxmX6dmGgUWTPxKw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP540788.RAF2xdBVe1IirhE-brIdtliiBE71KFxmX6dmGgUWTPxKw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP540788.RAF2xdBVe1IirhE-brIdtliiBE71KFxmX6dmGgUWTPxKw130_provenance.
- NP540788.RAF2xdBVe1IirhE-brIdtliiBE71KFxmX6dmGgUWTPxKw130_assertion description "[Germline mutations in PTPN11--the gene encoding the nonreceptor protein tyrosine phosphatase SHP-2--represent a major cause of Noonan syndrome (NS), a developmental disorder characterized by short stature and facial dysmorphism, as well as skeletal, hematologic, and congenital heart defects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP540788.RAF2xdBVe1IirhE-brIdtliiBE71KFxmX6dmGgUWTPxKw130_provenance.
- NP540788.RAF2xdBVe1IirhE-brIdtliiBE71KFxmX6dmGgUWTPxKw130_assertion evidence source_evidence_literature NP540788.RAF2xdBVe1IirhE-brIdtliiBE71KFxmX6dmGgUWTPxKw130_provenance.
- NP540788.RAF2xdBVe1IirhE-brIdtliiBE71KFxmX6dmGgUWTPxKw130_assertion SIO_000772 15248152 NP540788.RAF2xdBVe1IirhE-brIdtliiBE71KFxmX6dmGgUWTPxKw130_provenance.
- NP540788.RAF2xdBVe1IirhE-brIdtliiBE71KFxmX6dmGgUWTPxKw130_assertion wasDerivedFrom befree-20140225 NP540788.RAF2xdBVe1IirhE-brIdtliiBE71KFxmX6dmGgUWTPxKw130_provenance.
- NP540788.RAF2xdBVe1IirhE-brIdtliiBE71KFxmX6dmGgUWTPxKw130_assertion wasGeneratedBy ECO_0000203 NP540788.RAF2xdBVe1IirhE-brIdtliiBE71KFxmX6dmGgUWTPxKw130_provenance.
- befree-20140225 importedOn "2014-02-25" NP540788.RAF2xdBVe1IirhE-brIdtliiBE71KFxmX6dmGgUWTPxKw130_provenance.