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Short Tandem Repeats in Human Exons: A Target for Disease Mutations
2008
BMC Genomics
In recent years it has been demonstrated that structural variations, such as indels (insertions and deletions), are common throughout the genome, but the implications of structural variations are still not clearly understood. Long tandem repeats (e.g. microsatellites or simple repeats) are known to be hypermutable (indel-rich), but are rare in exons and only occasionally associated with diseases. Here we focus on short (imperfect) tandem repeats (STRs) which fall below the radar of conventional
doi:10.1186/1471-2164-9-410
pmid:18789129
pmcid:PMC2543027
fatcat:hx663g6gojdvhmsqexvgaz2heu