Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1311940.RAm5gT2VSIhSJog6YRviqvCilef4YYnDzkrPxmKrkt_qY130_assertion> ?p ?o ?g. }
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- NP1311940.RAm5gT2VSIhSJog6YRviqvCilef4YYnDzkrPxmKrkt_qY130_assertion type Assertion NP1311940.RAm5gT2VSIhSJog6YRviqvCilef4YYnDzkrPxmKrkt_qY130_head.
- NP1311940.RAm5gT2VSIhSJog6YRviqvCilef4YYnDzkrPxmKrkt_qY130_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." NP1311940.RAm5gT2VSIhSJog6YRviqvCilef4YYnDzkrPxmKrkt_qY130_provenance.
- NP1311940.RAm5gT2VSIhSJog6YRviqvCilef4YYnDzkrPxmKrkt_qY130_assertion evidence source_evidence_literature NP1311940.RAm5gT2VSIhSJog6YRviqvCilef4YYnDzkrPxmKrkt_qY130_provenance.
- NP1311940.RAm5gT2VSIhSJog6YRviqvCilef4YYnDzkrPxmKrkt_qY130_assertion SIO_000772 7545204 NP1311940.RAm5gT2VSIhSJog6YRviqvCilef4YYnDzkrPxmKrkt_qY130_provenance.
- NP1311940.RAm5gT2VSIhSJog6YRviqvCilef4YYnDzkrPxmKrkt_qY130_assertion wasDerivedFrom befree-2016 NP1311940.RAm5gT2VSIhSJog6YRviqvCilef4YYnDzkrPxmKrkt_qY130_provenance.
- NP1311940.RAm5gT2VSIhSJog6YRviqvCilef4YYnDzkrPxmKrkt_qY130_assertion wasGeneratedBy ECO_0000203 NP1311940.RAm5gT2VSIhSJog6YRviqvCilef4YYnDzkrPxmKrkt_qY130_provenance.