Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP272547.RAkMs-aajpYEP3yNxNZFCRG31STaLmIl710xcDPVEydIo130_assertion> ?p ?o ?g. }
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- NP272547.RAkMs-aajpYEP3yNxNZFCRG31STaLmIl710xcDPVEydIo130_assertion type Assertion NP272547.RAkMs-aajpYEP3yNxNZFCRG31STaLmIl710xcDPVEydIo130_head.
- NP272547.RAkMs-aajpYEP3yNxNZFCRG31STaLmIl710xcDPVEydIo130_assertion description "[Clinical review of known individuals with MEK1/MEK2 mutations suggests that these patients show dysmorphic features, ectodermal abnormalities and cognitive deficit similar to what was observed in BRAF-mutated patients and in the general CFCS population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP272547.RAkMs-aajpYEP3yNxNZFCRG31STaLmIl710xcDPVEydIo130_provenance.
- NP272547.RAkMs-aajpYEP3yNxNZFCRG31STaLmIl710xcDPVEydIo130_assertion evidence source_evidence_literature NP272547.RAkMs-aajpYEP3yNxNZFCRG31STaLmIl710xcDPVEydIo130_provenance.
- NP272547.RAkMs-aajpYEP3yNxNZFCRG31STaLmIl710xcDPVEydIo130_assertion SIO_000772 19156172 NP272547.RAkMs-aajpYEP3yNxNZFCRG31STaLmIl710xcDPVEydIo130_provenance.
- NP272547.RAkMs-aajpYEP3yNxNZFCRG31STaLmIl710xcDPVEydIo130_assertion wasDerivedFrom befree-20150227 NP272547.RAkMs-aajpYEP3yNxNZFCRG31STaLmIl710xcDPVEydIo130_provenance.
- NP272547.RAkMs-aajpYEP3yNxNZFCRG31STaLmIl710xcDPVEydIo130_assertion wasGeneratedBy ECO_0000203 NP272547.RAkMs-aajpYEP3yNxNZFCRG31STaLmIl710xcDPVEydIo130_provenance.