Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP724037.RARo-zW4zt-krjruuVTvhQZ3XomMED1-RXDEqHIrihjVs130_assertion> ?p ?o ?g. }
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- NP724037.RARo-zW4zt-krjruuVTvhQZ3XomMED1-RXDEqHIrihjVs130_assertion type Assertion NP724037.RARo-zW4zt-krjruuVTvhQZ3XomMED1-RXDEqHIrihjVs130_head.
- NP724037.RARo-zW4zt-krjruuVTvhQZ3XomMED1-RXDEqHIrihjVs130_assertion description "[Autosomal recessive hypercholesterolaemia (ARH), characterized clinically by severe inherited hypercholesterolaemia, is caused by recessive null mutations in LDLRAP1 (formerly ARH).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP724037.RARo-zW4zt-krjruuVTvhQZ3XomMED1-RXDEqHIrihjVs130_provenance.
- NP724037.RARo-zW4zt-krjruuVTvhQZ3XomMED1-RXDEqHIrihjVs130_assertion evidence source_evidence_literature NP724037.RARo-zW4zt-krjruuVTvhQZ3XomMED1-RXDEqHIrihjVs130_provenance.
- NP724037.RARo-zW4zt-krjruuVTvhQZ3XomMED1-RXDEqHIrihjVs130_assertion SIO_000772 17761685 NP724037.RARo-zW4zt-krjruuVTvhQZ3XomMED1-RXDEqHIrihjVs130_provenance.
- NP724037.RARo-zW4zt-krjruuVTvhQZ3XomMED1-RXDEqHIrihjVs130_assertion wasDerivedFrom befree-20140225 NP724037.RARo-zW4zt-krjruuVTvhQZ3XomMED1-RXDEqHIrihjVs130_provenance.
- NP724037.RARo-zW4zt-krjruuVTvhQZ3XomMED1-RXDEqHIrihjVs130_assertion wasGeneratedBy ECO_0000203 NP724037.RARo-zW4zt-krjruuVTvhQZ3XomMED1-RXDEqHIrihjVs130_provenance.