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Article

A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon.

Journal of medical genetics - 1 Oct 2022

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

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PMID: 35318247
DOI: 10.1136/jmedgenet-2021-108281
PMCID: PMC9554250

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