Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP826030.RAG9dA1XuDGbu8cGKRl7aszS-uRJkHiiYHczPavWoNNgw130_assertion> ?p ?o ?g. }
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- NP826030.RAG9dA1XuDGbu8cGKRl7aszS-uRJkHiiYHczPavWoNNgw130_assertion type Assertion NP826030.RAG9dA1XuDGbu8cGKRl7aszS-uRJkHiiYHczPavWoNNgw130_head.
- NP826030.RAG9dA1XuDGbu8cGKRl7aszS-uRJkHiiYHczPavWoNNgw130_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." NP826030.RAG9dA1XuDGbu8cGKRl7aszS-uRJkHiiYHczPavWoNNgw130_provenance.
- NP826030.RAG9dA1XuDGbu8cGKRl7aszS-uRJkHiiYHczPavWoNNgw130_assertion evidence source_evidence_literature NP826030.RAG9dA1XuDGbu8cGKRl7aszS-uRJkHiiYHczPavWoNNgw130_provenance.
- NP826030.RAG9dA1XuDGbu8cGKRl7aszS-uRJkHiiYHczPavWoNNgw130_assertion SIO_000772 17211612 NP826030.RAG9dA1XuDGbu8cGKRl7aszS-uRJkHiiYHczPavWoNNgw130_provenance.
- NP826030.RAG9dA1XuDGbu8cGKRl7aszS-uRJkHiiYHczPavWoNNgw130_assertion wasDerivedFrom befree-20140225 NP826030.RAG9dA1XuDGbu8cGKRl7aszS-uRJkHiiYHczPavWoNNgw130_provenance.
- NP826030.RAG9dA1XuDGbu8cGKRl7aszS-uRJkHiiYHczPavWoNNgw130_assertion wasGeneratedBy ECO_0000203 NP826030.RAG9dA1XuDGbu8cGKRl7aszS-uRJkHiiYHczPavWoNNgw130_provenance.