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- source_evidence_literature type ECO_0000212 NP617889.RAg34ALlDnagtbANnRDxJkzoqZY2rq25ewX3D9lV6bj8Y130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP617889.RAg34ALlDnagtbANnRDxJkzoqZY2rq25ewX3D9lV6bj8Y130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP617889.RAg34ALlDnagtbANnRDxJkzoqZY2rq25ewX3D9lV6bj8Y130_provenance.
- NP617889.RAg34ALlDnagtbANnRDxJkzoqZY2rq25ewX3D9lV6bj8Y130_assertion description "[Here, we report that 18 of 231 individuals with Noonan syndrome without known mutations (corresponding to 3% of all affected individuals) and two of six individuals with LEOPARD syndrome without PTPN11 mutations have missense mutations in RAF1, which encodes a serine-threonine kinase that activates MEK1 and MEK2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP617889.RAg34ALlDnagtbANnRDxJkzoqZY2rq25ewX3D9lV6bj8Y130_provenance.
- NP617889.RAg34ALlDnagtbANnRDxJkzoqZY2rq25ewX3D9lV6bj8Y130_assertion evidence source_evidence_literature NP617889.RAg34ALlDnagtbANnRDxJkzoqZY2rq25ewX3D9lV6bj8Y130_provenance.
- NP617889.RAg34ALlDnagtbANnRDxJkzoqZY2rq25ewX3D9lV6bj8Y130_assertion SIO_000772 17603483 NP617889.RAg34ALlDnagtbANnRDxJkzoqZY2rq25ewX3D9lV6bj8Y130_provenance.
- NP617889.RAg34ALlDnagtbANnRDxJkzoqZY2rq25ewX3D9lV6bj8Y130_assertion wasDerivedFrom befree-2016 NP617889.RAg34ALlDnagtbANnRDxJkzoqZY2rq25ewX3D9lV6bj8Y130_provenance.
- NP617889.RAg34ALlDnagtbANnRDxJkzoqZY2rq25ewX3D9lV6bj8Y130_assertion wasGeneratedBy ECO_0000203 NP617889.RAg34ALlDnagtbANnRDxJkzoqZY2rq25ewX3D9lV6bj8Y130_provenance.
- befree-2016 importedOn "2016-02-19" NP617889.RAg34ALlDnagtbANnRDxJkzoqZY2rq25ewX3D9lV6bj8Y130_provenance.