Matches in Nanopublications for { ?s ?p "[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."@en ?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 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.
- NP1358518.RAcmTwk2FJ8dXcMs3hp4gpX6yMoXzW1kVYWj1A-iJCfts130_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." NP1358518.RAcmTwk2FJ8dXcMs3hp4gpX6yMoXzW1kVYWj1A-iJCfts130_provenance.