Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP27896.RAn5b79jq-Rk-ZR8BI46O6ktCWM7EPCnYPvnI8CmZPjbo130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP27896.RAn5b79jq-Rk-ZR8BI46O6ktCWM7EPCnYPvnI8CmZPjbo130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP27896.RAn5b79jq-Rk-ZR8BI46O6ktCWM7EPCnYPvnI8CmZPjbo130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP27896.RAn5b79jq-Rk-ZR8BI46O6ktCWM7EPCnYPvnI8CmZPjbo130_provenance.
- NP27896.RAn5b79jq-Rk-ZR8BI46O6ktCWM7EPCnYPvnI8CmZPjbo130_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." NP27896.RAn5b79jq-Rk-ZR8BI46O6ktCWM7EPCnYPvnI8CmZPjbo130_provenance.
- NP27896.RAn5b79jq-Rk-ZR8BI46O6ktCWM7EPCnYPvnI8CmZPjbo130_assertion evidence source_evidence_curated NP27896.RAn5b79jq-Rk-ZR8BI46O6ktCWM7EPCnYPvnI8CmZPjbo130_provenance.
- NP27896.RAn5b79jq-Rk-ZR8BI46O6ktCWM7EPCnYPvnI8CmZPjbo130_assertion SIO_000772 17603483 NP27896.RAn5b79jq-Rk-ZR8BI46O6ktCWM7EPCnYPvnI8CmZPjbo130_provenance.
- NP27896.RAn5b79jq-Rk-ZR8BI46O6ktCWM7EPCnYPvnI8CmZPjbo130_assertion wasDerivedFrom ctd_human-20150221 NP27896.RAn5b79jq-Rk-ZR8BI46O6ktCWM7EPCnYPvnI8CmZPjbo130_provenance.
- NP27896.RAn5b79jq-Rk-ZR8BI46O6ktCWM7EPCnYPvnI8CmZPjbo130_assertion wasGeneratedBy ECO_0000218 NP27896.RAn5b79jq-Rk-ZR8BI46O6ktCWM7EPCnYPvnI8CmZPjbo130_provenance.
- ctd_human-20150221 importedOn "2015-02-21" NP27896.RAn5b79jq-Rk-ZR8BI46O6ktCWM7EPCnYPvnI8CmZPjbo130_provenance.