Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP348660.RAhKbpzhqJasJfJd3isIlqLkGEz-rZlZv0HU0sC7VEkCk130_assertion> ?p ?o ?g. }
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- NP348660.RAhKbpzhqJasJfJd3isIlqLkGEz-rZlZv0HU0sC7VEkCk130_assertion type Assertion NP348660.RAhKbpzhqJasJfJd3isIlqLkGEz-rZlZv0HU0sC7VEkCk130_head.
- NP348660.RAhKbpzhqJasJfJd3isIlqLkGEz-rZlZv0HU0sC7VEkCk130_assertion description "[Tangier disease (TD), a rare disorder characterized by extremely low levels of high density lipoprotein cholesterol (HDL-C), is caused by mutations in the ATP-binding cassette transporter A1 (ABCA1) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP348660.RAhKbpzhqJasJfJd3isIlqLkGEz-rZlZv0HU0sC7VEkCk130_provenance.
- NP348660.RAhKbpzhqJasJfJd3isIlqLkGEz-rZlZv0HU0sC7VEkCk130_assertion evidence source_evidence_literature NP348660.RAhKbpzhqJasJfJd3isIlqLkGEz-rZlZv0HU0sC7VEkCk130_provenance.
- NP348660.RAhKbpzhqJasJfJd3isIlqLkGEz-rZlZv0HU0sC7VEkCk130_assertion SIO_000772 15384103 NP348660.RAhKbpzhqJasJfJd3isIlqLkGEz-rZlZv0HU0sC7VEkCk130_provenance.
- NP348660.RAhKbpzhqJasJfJd3isIlqLkGEz-rZlZv0HU0sC7VEkCk130_assertion wasDerivedFrom befree-20140225 NP348660.RAhKbpzhqJasJfJd3isIlqLkGEz-rZlZv0HU0sC7VEkCk130_provenance.
- NP348660.RAhKbpzhqJasJfJd3isIlqLkGEz-rZlZv0HU0sC7VEkCk130_assertion wasGeneratedBy ECO_0000203 NP348660.RAhKbpzhqJasJfJd3isIlqLkGEz-rZlZv0HU0sC7VEkCk130_provenance.