Expression Changes Confirm Genomic Variants Predicted to Result in Allele-Specific, Alternative mRNA Splicing.

Of the 22 SNPs tested, 2 showed a direct correlation between a decrease in natural splice site strength, reduced amplification of the internal reference by q-RT-PCR (of multiple individuals) and a decreasing trend in expression by genotype by microarray: rs2072049 ( Supplementary Image 1.9 ) and rs1018448 ( Supplementary Image 1.3 ), although these differences do not meet statistical significance.

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