A polymorphic AT-repeat causes frequent allele dropout for an <i>MME</i> mutational hotspot exon.
Helle HøyerHilde T HilmarsenRaute Sunder-PlassmannGeir J BraathenPeter M AndersenChristian BeetzSandra HackerØystein L HollaIngo KurthWolfgang N LöscherSimone B C F ReiterSabine Rudnik-SchönebornLinda StrandReinhard WindhagerMartina Witsch-BaumgartnerJan SenderekMichaela Auer-GrumbachPublished in: Journal of medical genetics (2022)
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