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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Characterization of two unusual allele variants at the STR locus ACTBP2 (SE33)
Thomas Lederer1, Günther Braunschweiger, Bettina Dunkelmann
1Institute of Legal Medicine, University Erlangen-Nürnberg, Universitätsstrasse 22, 91054 Erlangen, Germany. thomas.lederer@recht.med.uni-erlangen.de
Abstract:
Two uncommon allelic variants have been observed at the locus ACTBP2 (SE33) and both were located far outside the ladder range of commercially available typing kits. The short variant showed a 60-bp deletion upstream of the 5'-flanking region with a typical type I repeat structure, which actually would have to be assigned as allele 16. The long allele revealed a typical type III sequence structure that has to be designated as allele 41.
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