Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP310818.RAUlROCk22jmHTYcnkTHB-UL9yhJGG0gDsk1djF2K0F10130_assertion> ?p ?o ?g. }
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- NP310818.RAUlROCk22jmHTYcnkTHB-UL9yhJGG0gDsk1djF2K0F10130_assertion type Assertion NP310818.RAUlROCk22jmHTYcnkTHB-UL9yhJGG0gDsk1djF2K0F10130_head.
- NP310818.RAUlROCk22jmHTYcnkTHB-UL9yhJGG0gDsk1djF2K0F10130_assertion description "[Conradi-H�nermann-Happle syndrome is caused by mutations in the gene EBP encoding ?(8)-?(7) sterol isomerase emopamil-binding protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP310818.RAUlROCk22jmHTYcnkTHB-UL9yhJGG0gDsk1djF2K0F10130_provenance.
- NP310818.RAUlROCk22jmHTYcnkTHB-UL9yhJGG0gDsk1djF2K0F10130_assertion evidence source_evidence_literature NP310818.RAUlROCk22jmHTYcnkTHB-UL9yhJGG0gDsk1djF2K0F10130_provenance.
- NP310818.RAUlROCk22jmHTYcnkTHB-UL9yhJGG0gDsk1djF2K0F10130_assertion SIO_000772 21931045 NP310818.RAUlROCk22jmHTYcnkTHB-UL9yhJGG0gDsk1djF2K0F10130_provenance.
- NP310818.RAUlROCk22jmHTYcnkTHB-UL9yhJGG0gDsk1djF2K0F10130_assertion wasDerivedFrom befree-20140225 NP310818.RAUlROCk22jmHTYcnkTHB-UL9yhJGG0gDsk1djF2K0F10130_provenance.
- NP310818.RAUlROCk22jmHTYcnkTHB-UL9yhJGG0gDsk1djF2K0F10130_assertion wasGeneratedBy ECO_0000203 NP310818.RAUlROCk22jmHTYcnkTHB-UL9yhJGG0gDsk1djF2K0F10130_provenance.