Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP444363.RAu2YI9zM5V4CaPxv4f_K8An6VMf1qJlZDu6yCWrIOPVM130_assertion> ?p ?o ?g. }
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- NP444363.RAu2YI9zM5V4CaPxv4f_K8An6VMf1qJlZDu6yCWrIOPVM130_assertion type Assertion NP444363.RAu2YI9zM5V4CaPxv4f_K8An6VMf1qJlZDu6yCWrIOPVM130_head.
- NP444363.RAu2YI9zM5V4CaPxv4f_K8An6VMf1qJlZDu6yCWrIOPVM130_assertion wasGeneratedBy ECO_0000203 NP444363.RAu2YI9zM5V4CaPxv4f_K8An6VMf1qJlZDu6yCWrIOPVM130_provenance.
- NP444363.RAu2YI9zM5V4CaPxv4f_K8An6VMf1qJlZDu6yCWrIOPVM130_assertion wasDerivedFrom befree-20140225 NP444363.RAu2YI9zM5V4CaPxv4f_K8An6VMf1qJlZDu6yCWrIOPVM130_provenance.
- NP444363.RAu2YI9zM5V4CaPxv4f_K8An6VMf1qJlZDu6yCWrIOPVM130_assertion SIO_000772 16921267 NP444363.RAu2YI9zM5V4CaPxv4f_K8An6VMf1qJlZDu6yCWrIOPVM130_provenance.
- NP444363.RAu2YI9zM5V4CaPxv4f_K8An6VMf1qJlZDu6yCWrIOPVM130_assertion evidence source_evidence_literature NP444363.RAu2YI9zM5V4CaPxv4f_K8An6VMf1qJlZDu6yCWrIOPVM130_provenance.
- NP444363.RAu2YI9zM5V4CaPxv4f_K8An6VMf1qJlZDu6yCWrIOPVM130_assertion description "[We and others recently discovered novel germline KRAS mutations in individuals diagnosed with Noonan or cardio-facio-cutanous (CFC) syndrome, two clinically overlapping disorders characterized by short stature, distinct facial anomalies, heart defects, and other developmental abnormalities.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP444363.RAu2YI9zM5V4CaPxv4f_K8An6VMf1qJlZDu6yCWrIOPVM130_provenance.