Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP528048.RAwCy1xSa7Gg4L8mQs_Oo0W0YKO3et1uYJO4hCsHeo1Ek130_assertion> ?p ?o ?g. }
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- NP528048.RAwCy1xSa7Gg4L8mQs_Oo0W0YKO3et1uYJO4hCsHeo1Ek130_assertion type Assertion NP528048.RAwCy1xSa7Gg4L8mQs_Oo0W0YKO3et1uYJO4hCsHeo1Ek130_head.
- NP528048.RAwCy1xSa7Gg4L8mQs_Oo0W0YKO3et1uYJO4hCsHeo1Ek130_assertion description "[We and others have recently discovered germline mutations in the KRAS gene in individuals diagnosed with Noonan and cardio-facio-cutaneous (CFC) syndrome, two clinically overlapping disorders characterized by short stature, distinct facial anomalies, heart defects, and other abnormalities.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP528048.RAwCy1xSa7Gg4L8mQs_Oo0W0YKO3et1uYJO4hCsHeo1Ek130_provenance.
- NP528048.RAwCy1xSa7Gg4L8mQs_Oo0W0YKO3et1uYJO4hCsHeo1Ek130_assertion evidence source_evidence_literature NP528048.RAwCy1xSa7Gg4L8mQs_Oo0W0YKO3et1uYJO4hCsHeo1Ek130_provenance.
- NP528048.RAwCy1xSa7Gg4L8mQs_Oo0W0YKO3et1uYJO4hCsHeo1Ek130_assertion SIO_000772 17211612 NP528048.RAwCy1xSa7Gg4L8mQs_Oo0W0YKO3et1uYJO4hCsHeo1Ek130_provenance.
- NP528048.RAwCy1xSa7Gg4L8mQs_Oo0W0YKO3et1uYJO4hCsHeo1Ek130_assertion wasDerivedFrom befree-20150227 NP528048.RAwCy1xSa7Gg4L8mQs_Oo0W0YKO3et1uYJO4hCsHeo1Ek130_provenance.
- NP528048.RAwCy1xSa7Gg4L8mQs_Oo0W0YKO3et1uYJO4hCsHeo1Ek130_assertion wasGeneratedBy ECO_0000203 NP528048.RAwCy1xSa7Gg4L8mQs_Oo0W0YKO3et1uYJO4hCsHeo1Ek130_provenance.