Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP638644.RAb7EdKHRCoS2De8crLnsmYBqBNtokEJiZEzzJzLPs8Co#assertion> ?p ?o ?g. }
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- assertion description "[Occurrence of multiple aberrantly spliced mRNAs of the LDL-receptor gene upon a donor splice site mutation that causes familial hypercholesterolemia (FHBenevento).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 7545204 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.