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- source_evidence_literature type ECO_0000212 NP646020.RAnYxoCfEmM1wfiCQwsaqDF-gBEqbyj6qNJ6hwWO-sDTs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP646020.RAnYxoCfEmM1wfiCQwsaqDF-gBEqbyj6qNJ6hwWO-sDTs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP646020.RAnYxoCfEmM1wfiCQwsaqDF-gBEqbyj6qNJ6hwWO-sDTs130_provenance.
- NP646020.RAnYxoCfEmM1wfiCQwsaqDF-gBEqbyj6qNJ6hwWO-sDTs130_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." NP646020.RAnYxoCfEmM1wfiCQwsaqDF-gBEqbyj6qNJ6hwWO-sDTs130_provenance.
- NP646020.RAnYxoCfEmM1wfiCQwsaqDF-gBEqbyj6qNJ6hwWO-sDTs130_assertion evidence source_evidence_literature NP646020.RAnYxoCfEmM1wfiCQwsaqDF-gBEqbyj6qNJ6hwWO-sDTs130_provenance.
- NP646020.RAnYxoCfEmM1wfiCQwsaqDF-gBEqbyj6qNJ6hwWO-sDTs130_assertion SIO_000772 17603483 NP646020.RAnYxoCfEmM1wfiCQwsaqDF-gBEqbyj6qNJ6hwWO-sDTs130_provenance.
- NP646020.RAnYxoCfEmM1wfiCQwsaqDF-gBEqbyj6qNJ6hwWO-sDTs130_assertion wasDerivedFrom befree-20150227 NP646020.RAnYxoCfEmM1wfiCQwsaqDF-gBEqbyj6qNJ6hwWO-sDTs130_provenance.
- NP646020.RAnYxoCfEmM1wfiCQwsaqDF-gBEqbyj6qNJ6hwWO-sDTs130_assertion wasGeneratedBy ECO_0000203 NP646020.RAnYxoCfEmM1wfiCQwsaqDF-gBEqbyj6qNJ6hwWO-sDTs130_provenance.
- befree-20150227 importedOn "2015-02-27" NP646020.RAnYxoCfEmM1wfiCQwsaqDF-gBEqbyj6qNJ6hwWO-sDTs130_provenance.