Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP469032.RALgCYnyiAXlmdzrzB-W17VBnlrm9cjZTzkYCrzx2fFz8130_assertion> ?p ?o ?g. }
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- NP469032.RALgCYnyiAXlmdzrzB-W17VBnlrm9cjZTzkYCrzx2fFz8130_assertion type Assertion NP469032.RALgCYnyiAXlmdzrzB-W17VBnlrm9cjZTzkYCrzx2fFz8130_head.
- NP469032.RALgCYnyiAXlmdzrzB-W17VBnlrm9cjZTzkYCrzx2fFz8130_assertion description "[We identified a G to A transition, resulting in a Glu506Lys substitution in the PRKAG2 gene in 8 of the family members, who all had cardiac hypertrophy and ventricular pre-excitation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP469032.RALgCYnyiAXlmdzrzB-W17VBnlrm9cjZTzkYCrzx2fFz8130_provenance.
- NP469032.RALgCYnyiAXlmdzrzB-W17VBnlrm9cjZTzkYCrzx2fFz8130_assertion evidence source_evidence_literature NP469032.RALgCYnyiAXlmdzrzB-W17VBnlrm9cjZTzkYCrzx2fFz8130_provenance.
- NP469032.RALgCYnyiAXlmdzrzB-W17VBnlrm9cjZTzkYCrzx2fFz8130_assertion SIO_000772 16716659 NP469032.RALgCYnyiAXlmdzrzB-W17VBnlrm9cjZTzkYCrzx2fFz8130_provenance.
- NP469032.RALgCYnyiAXlmdzrzB-W17VBnlrm9cjZTzkYCrzx2fFz8130_assertion wasDerivedFrom befree-20140225 NP469032.RALgCYnyiAXlmdzrzB-W17VBnlrm9cjZTzkYCrzx2fFz8130_provenance.
- NP469032.RALgCYnyiAXlmdzrzB-W17VBnlrm9cjZTzkYCrzx2fFz8130_assertion wasGeneratedBy ECO_0000203 NP469032.RALgCYnyiAXlmdzrzB-W17VBnlrm9cjZTzkYCrzx2fFz8130_provenance.