Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP849591.RAdjls-Eghe0VS03q6LGiFCougDM3Lhkr2Omd-RSUSnUg130_assertion> ?p ?o ?g. }
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- NP849591.RAdjls-Eghe0VS03q6LGiFCougDM3Lhkr2Omd-RSUSnUg130_assertion type Assertion NP849591.RAdjls-Eghe0VS03q6LGiFCougDM3Lhkr2Omd-RSUSnUg130_head.
- NP849591.RAdjls-Eghe0VS03q6LGiFCougDM3Lhkr2Omd-RSUSnUg130_assertion description "[A novel missense LIPA gene mutation, N98S, in a patient with cholesteryl ester storage disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP849591.RAdjls-Eghe0VS03q6LGiFCougDM3Lhkr2Omd-RSUSnUg130_provenance.
- NP849591.RAdjls-Eghe0VS03q6LGiFCougDM3Lhkr2Omd-RSUSnUg130_assertion evidence source_evidence_literature NP849591.RAdjls-Eghe0VS03q6LGiFCougDM3Lhkr2Omd-RSUSnUg130_provenance.
- NP849591.RAdjls-Eghe0VS03q6LGiFCougDM3Lhkr2Omd-RSUSnUg130_assertion SIO_000772 18775687 NP849591.RAdjls-Eghe0VS03q6LGiFCougDM3Lhkr2Omd-RSUSnUg130_provenance.
- NP849591.RAdjls-Eghe0VS03q6LGiFCougDM3Lhkr2Omd-RSUSnUg130_assertion wasDerivedFrom befree-20150227 NP849591.RAdjls-Eghe0VS03q6LGiFCougDM3Lhkr2Omd-RSUSnUg130_provenance.
- NP849591.RAdjls-Eghe0VS03q6LGiFCougDM3Lhkr2Omd-RSUSnUg130_assertion wasGeneratedBy ECO_0000203 NP849591.RAdjls-Eghe0VS03q6LGiFCougDM3Lhkr2Omd-RSUSnUg130_provenance.