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Published in 2019 at "Molecular and cellular probes"
DOI: 10.1016/j.mcp.2019.03.008
Abstract: Monogenetic diseases can be analyzed routinely by targeted DNA sequencing. If causative variants are not found, complementary methods like RNA sequencing or analysis of copy number variations by multiplex ligation-dependent probe amplification have to be…
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Keywords:
exon duplication;
mediated exon;
alu mediated;
fabry disease ... See more keywords