The effect of a single SMARCA4 exon deletion on RNA splicing: Implications for variant classification

Anna Byrjalsen, Ulrik Stoltze, Mana Mehrjouy, Jane Hübertz Frederiksen, Mads Bak, Ulf Birkedal, Henrik Hasle, Anne-Marie Gerdes, Kjeld Schmiegelow, Karin Wadt, Thomas van Overeem Hansen*

*Corresponding author af dette arbejde

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Keyphrases

Biochemistry, Genetics and Molecular Biology