Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP27889.RAkHGu2y_C_qyNrt5-KtZRbA77u_DvJbZZBk4Xft2DswI130_assertion> ?p ?o ?g. }
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- NP27889.RAkHGu2y_C_qyNrt5-KtZRbA77u_DvJbZZBk4Xft2DswI130_assertion type Assertion NP27889.RAkHGu2y_C_qyNrt5-KtZRbA77u_DvJbZZBk4Xft2DswI130_head.
- NP27889.RAkHGu2y_C_qyNrt5-KtZRbA77u_DvJbZZBk4Xft2DswI130_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." NP27889.RAkHGu2y_C_qyNrt5-KtZRbA77u_DvJbZZBk4Xft2DswI130_provenance.
- NP27889.RAkHGu2y_C_qyNrt5-KtZRbA77u_DvJbZZBk4Xft2DswI130_assertion evidence source_evidence_curated NP27889.RAkHGu2y_C_qyNrt5-KtZRbA77u_DvJbZZBk4Xft2DswI130_provenance.
- NP27889.RAkHGu2y_C_qyNrt5-KtZRbA77u_DvJbZZBk4Xft2DswI130_assertion SIO_000772 17603483 NP27889.RAkHGu2y_C_qyNrt5-KtZRbA77u_DvJbZZBk4Xft2DswI130_provenance.
- NP27889.RAkHGu2y_C_qyNrt5-KtZRbA77u_DvJbZZBk4Xft2DswI130_assertion wasDerivedFrom ctd_human-20150221 NP27889.RAkHGu2y_C_qyNrt5-KtZRbA77u_DvJbZZBk4Xft2DswI130_provenance.
- NP27889.RAkHGu2y_C_qyNrt5-KtZRbA77u_DvJbZZBk4Xft2DswI130_assertion wasGeneratedBy ECO_0000218 NP27889.RAkHGu2y_C_qyNrt5-KtZRbA77u_DvJbZZBk4Xft2DswI130_provenance.