Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP861706.RAwYZdfLm45xlJUutkEIleS0nfgTIOAseoN2DBt_MgoWQ130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP861706.RAwYZdfLm45xlJUutkEIleS0nfgTIOAseoN2DBt_MgoWQ130_assertion type Assertion NP861706.RAwYZdfLm45xlJUutkEIleS0nfgTIOAseoN2DBt_MgoWQ130_head.
- NP861706.RAwYZdfLm45xlJUutkEIleS0nfgTIOAseoN2DBt_MgoWQ130_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." NP861706.RAwYZdfLm45xlJUutkEIleS0nfgTIOAseoN2DBt_MgoWQ130_provenance.
- NP861706.RAwYZdfLm45xlJUutkEIleS0nfgTIOAseoN2DBt_MgoWQ130_assertion evidence source_evidence_literature NP861706.RAwYZdfLm45xlJUutkEIleS0nfgTIOAseoN2DBt_MgoWQ130_provenance.
- NP861706.RAwYZdfLm45xlJUutkEIleS0nfgTIOAseoN2DBt_MgoWQ130_assertion SIO_000772 17603483 NP861706.RAwYZdfLm45xlJUutkEIleS0nfgTIOAseoN2DBt_MgoWQ130_provenance.
- NP861706.RAwYZdfLm45xlJUutkEIleS0nfgTIOAseoN2DBt_MgoWQ130_assertion wasDerivedFrom befree-20140225 NP861706.RAwYZdfLm45xlJUutkEIleS0nfgTIOAseoN2DBt_MgoWQ130_provenance.
- NP861706.RAwYZdfLm45xlJUutkEIleS0nfgTIOAseoN2DBt_MgoWQ130_assertion wasGeneratedBy ECO_0000203 NP861706.RAwYZdfLm45xlJUutkEIleS0nfgTIOAseoN2DBt_MgoWQ130_provenance.