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Figure 1 Schematic diagram showing structure of PCSK9 and exons/introns, location of single nucleotide polymorphisms (SNPs), and polymorphisms. Segments of the gene corresponding to neural apoptosis-regulated convertase-1 domains are shown. The reference number (rs) and the frequency (f) of the less common allele for each SNP are also shown. Polymorphisms shown in boxes, representing the Ln short tandem repeat, nonsynonymous coding SNPs, and those located in intron-exon boundaries, were genotyped and analyzed for haplotype reconstruction and linkage disequilibrium studies.
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