Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP660711.RASgCzWkVqLOG5WG36Zs3xM0pg_0A0IY3U4QTikvuw_2Q130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP660711.RASgCzWkVqLOG5WG36Zs3xM0pg_0A0IY3U4QTikvuw_2Q130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP660711.RASgCzWkVqLOG5WG36Zs3xM0pg_0A0IY3U4QTikvuw_2Q130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP660711.RASgCzWkVqLOG5WG36Zs3xM0pg_0A0IY3U4QTikvuw_2Q130_provenance.
- NP660711.RASgCzWkVqLOG5WG36Zs3xM0pg_0A0IY3U4QTikvuw_2Q130_assertion description "[To investigate the phenotypic spectrum and molecular diversity of germline mutations affecting BRAF, which encodes a serine/threonine kinase functioning as a RAS effector frequently mutated in CFCS, subjects with a diagnosis of NS (N=270), LS (N=6), and CFCS (N=33), and no mutation in PTPN11, SOS1, KRAS, RAF1, MEK1, or MEK2, were screened for the entire coding sequence of the gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP660711.RASgCzWkVqLOG5WG36Zs3xM0pg_0A0IY3U4QTikvuw_2Q130_provenance.
- NP660711.RASgCzWkVqLOG5WG36Zs3xM0pg_0A0IY3U4QTikvuw_2Q130_assertion evidence source_evidence_literature NP660711.RASgCzWkVqLOG5WG36Zs3xM0pg_0A0IY3U4QTikvuw_2Q130_provenance.
- NP660711.RASgCzWkVqLOG5WG36Zs3xM0pg_0A0IY3U4QTikvuw_2Q130_assertion SIO_000772 19206169 NP660711.RASgCzWkVqLOG5WG36Zs3xM0pg_0A0IY3U4QTikvuw_2Q130_provenance.
- NP660711.RASgCzWkVqLOG5WG36Zs3xM0pg_0A0IY3U4QTikvuw_2Q130_assertion wasDerivedFrom befree-20150227 NP660711.RASgCzWkVqLOG5WG36Zs3xM0pg_0A0IY3U4QTikvuw_2Q130_provenance.
- NP660711.RASgCzWkVqLOG5WG36Zs3xM0pg_0A0IY3U4QTikvuw_2Q130_assertion wasGeneratedBy ECO_0000203 NP660711.RASgCzWkVqLOG5WG36Zs3xM0pg_0A0IY3U4QTikvuw_2Q130_provenance.
- befree-20150227 importedOn "2015-02-27" NP660711.RASgCzWkVqLOG5WG36Zs3xM0pg_0A0IY3U4QTikvuw_2Q130_provenance.