Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP640456.RAl8nvwEWYlVQO25d1rJgC_bdHXEHoiuEoCL-fvjGI1pc#assertion> ?p ?o ?g. }
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- assertion description "[We here report a defect presumably affecting the splicing of precursor mRNA, resulting from a novel mutation, a G to A transition at the terminal nucleotide of intron 12, of the LDLR gene detected in three unrelated families with heterozygous FH.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 8828981 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.