Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1205090.RArOesNvwCExkCul0_XpYRRIBRTK8Lpv_Qzgr_tA9tbyY#assertion> ?p ?o ?g. }
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- assertion description "[Pseudoxanthoma elasticum (PXE) is a heritable connective tissue disorder caused by mutations in an ABC (ATP-Binding Cassette) transporter gene (ABCC6), which manifests with cutaneous, ophthalmologic, and cardiovascular findings.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 15086542 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.