Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP615309.RATsMs0-iLlWLwNhsFYsGxR8Gcom9olZXPz1tZKqAOJJk130_assertion> ?p ?o ?g. }
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- NP615309.RATsMs0-iLlWLwNhsFYsGxR8Gcom9olZXPz1tZKqAOJJk130_assertion type Assertion NP615309.RATsMs0-iLlWLwNhsFYsGxR8Gcom9olZXPz1tZKqAOJJk130_head.
- NP615309.RATsMs0-iLlWLwNhsFYsGxR8Gcom9olZXPz1tZKqAOJJk130_assertion description "[Here we describe the clinical features of patients in whom a mutation in the calcium and diacylglycerol-regulated guanine nucleotide exchange factor 1 (CalDAG GEF1) was found and compare them to other cases of LAD III and to animal models harboring a mutation in the CalDAG GEF1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP615309.RATsMs0-iLlWLwNhsFYsGxR8Gcom9olZXPz1tZKqAOJJk130_provenance.
- NP615309.RATsMs0-iLlWLwNhsFYsGxR8Gcom9olZXPz1tZKqAOJJk130_assertion evidence source_evidence_literature NP615309.RATsMs0-iLlWLwNhsFYsGxR8Gcom9olZXPz1tZKqAOJJk130_provenance.
- NP615309.RATsMs0-iLlWLwNhsFYsGxR8Gcom9olZXPz1tZKqAOJJk130_assertion SIO_000772 18709451 NP615309.RATsMs0-iLlWLwNhsFYsGxR8Gcom9olZXPz1tZKqAOJJk130_provenance.
- NP615309.RATsMs0-iLlWLwNhsFYsGxR8Gcom9olZXPz1tZKqAOJJk130_assertion wasDerivedFrom befree-20140225 NP615309.RATsMs0-iLlWLwNhsFYsGxR8Gcom9olZXPz1tZKqAOJJk130_provenance.
- NP615309.RATsMs0-iLlWLwNhsFYsGxR8Gcom9olZXPz1tZKqAOJJk130_assertion wasGeneratedBy ECO_0000203 NP615309.RATsMs0-iLlWLwNhsFYsGxR8Gcom9olZXPz1tZKqAOJJk130_provenance.