Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP208249.RA8gsnlb-3P9_QwPgv_SNk2ifR0-AiXzDMGaCKJuPPSl0130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP208249.RA8gsnlb-3P9_QwPgv_SNk2ifR0-AiXzDMGaCKJuPPSl0130_assertion type Assertion NP208249.RA8gsnlb-3P9_QwPgv_SNk2ifR0-AiXzDMGaCKJuPPSl0130_head.
- NP208249.RA8gsnlb-3P9_QwPgv_SNk2ifR0-AiXzDMGaCKJuPPSl0130_assertion description "[To investigate the phenotypic spectrum and molecular diversity of germline mutations affecting BRAF, which encodes a serine/threonine kinase functioning as a RAS effector frequently mutated in CFCS, subjects with a diagnosis of NS (N=270), LS (N=6), and CFCS (N=33), and no mutation in PTPN11, SOS1, KRAS, RAF1, MEK1, or MEK2, were screened for the entire coding sequence of the gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP208249.RA8gsnlb-3P9_QwPgv_SNk2ifR0-AiXzDMGaCKJuPPSl0130_provenance.
- NP208249.RA8gsnlb-3P9_QwPgv_SNk2ifR0-AiXzDMGaCKJuPPSl0130_assertion evidence source_evidence_literature NP208249.RA8gsnlb-3P9_QwPgv_SNk2ifR0-AiXzDMGaCKJuPPSl0130_provenance.
- NP208249.RA8gsnlb-3P9_QwPgv_SNk2ifR0-AiXzDMGaCKJuPPSl0130_assertion SIO_000772 19206169 NP208249.RA8gsnlb-3P9_QwPgv_SNk2ifR0-AiXzDMGaCKJuPPSl0130_provenance.
- NP208249.RA8gsnlb-3P9_QwPgv_SNk2ifR0-AiXzDMGaCKJuPPSl0130_assertion wasDerivedFrom befree-20140225 NP208249.RA8gsnlb-3P9_QwPgv_SNk2ifR0-AiXzDMGaCKJuPPSl0130_provenance.
- NP208249.RA8gsnlb-3P9_QwPgv_SNk2ifR0-AiXzDMGaCKJuPPSl0130_assertion wasGeneratedBy ECO_0000203 NP208249.RA8gsnlb-3P9_QwPgv_SNk2ifR0-AiXzDMGaCKJuPPSl0130_provenance.