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5.7 years ago
vahid.atabaigi
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Hi, please someone learn me How does an intron variant affect the overall gene expression?
Hi, please someone learn me How does an intron variant affect the overall gene expression?
SNPs or Indel mutations in branch points or donor/acceptor splicing sites leads to the formation of variant form of intronic region. Hence, there may be chance for splicing error, the intron/introns may not be spliced out, which leads to an altered or lack of the expression of transcript/transcripts. Even transposable elements or MITEs would disturb any part of genomic or genic region and may alter the splicing pattern from normal mode to alternative splicing mode as well.
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