A polymorphic AT-repeat causes frequent allele dropout for an <i>MME</i> mutational hotspot exon

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Authors: Helle Høyer; Hilde T Hilmarsen; Raute Sunder-Plassmann; Geir J Braathen; Peter M Andersen; Christian Beetz; Sandra Hacker; Øystein L Holla; Ingo Kurth; Wolfgang N Löscher; Simone B C F Reiter; Sabine Rudnik-Schöneborn; Linda Strand; Reinhard Windhager; Martina Witsch-Baumgartner; Jan Senderek; Michaela Auer-Grumbach

Journal title: Crossref

Journal number: Oct;59(10):1024-1026

Journal publisher: J Med Genet

Published year: 2022

DOI identifier: 10.1136/jmedgenet-2021-108281