Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1393756.RANHlyGaZA5136fhVaFt48zVncC83vux-iVt7LcxAj_Fw130_assertion> ?p ?o ?g. }
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- NP1393756.RANHlyGaZA5136fhVaFt48zVncC83vux-iVt7LcxAj_Fw130_assertion type Assertion NP1393756.RANHlyGaZA5136fhVaFt48zVncC83vux-iVt7LcxAj_Fw130_head.
- NP1393756.RANHlyGaZA5136fhVaFt48zVncC83vux-iVt7LcxAj_Fw130_assertion description "[A novel splicing mutation in the ceruloplasmin gene responsible for hereditary ceruloplasmin deficiency with hemosiderosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1393756.RANHlyGaZA5136fhVaFt48zVncC83vux-iVt7LcxAj_Fw130_provenance.
- NP1393756.RANHlyGaZA5136fhVaFt48zVncC83vux-iVt7LcxAj_Fw130_assertion evidence source_evidence_literature NP1393756.RANHlyGaZA5136fhVaFt48zVncC83vux-iVt7LcxAj_Fw130_provenance.
- NP1393756.RANHlyGaZA5136fhVaFt48zVncC83vux-iVt7LcxAj_Fw130_assertion SIO_000772 9559983 NP1393756.RANHlyGaZA5136fhVaFt48zVncC83vux-iVt7LcxAj_Fw130_provenance.
- NP1393756.RANHlyGaZA5136fhVaFt48zVncC83vux-iVt7LcxAj_Fw130_assertion wasDerivedFrom befree-2016 NP1393756.RANHlyGaZA5136fhVaFt48zVncC83vux-iVt7LcxAj_Fw130_provenance.
- NP1393756.RANHlyGaZA5136fhVaFt48zVncC83vux-iVt7LcxAj_Fw130_assertion wasGeneratedBy ECO_0000203 NP1393756.RANHlyGaZA5136fhVaFt48zVncC83vux-iVt7LcxAj_Fw130_provenance.