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- source_evidence_literature type ECO_0000212 NP528048.RAwCy1xSa7Gg4L8mQs_Oo0W0YKO3et1uYJO4hCsHeo1Ek130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP528048.RAwCy1xSa7Gg4L8mQs_Oo0W0YKO3et1uYJO4hCsHeo1Ek130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP528048.RAwCy1xSa7Gg4L8mQs_Oo0W0YKO3et1uYJO4hCsHeo1Ek130_provenance.
- 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.
- befree-20150227 importedOn "2015-02-27" NP528048.RAwCy1xSa7Gg4L8mQs_Oo0W0YKO3et1uYJO4hCsHeo1Ek130_provenance.