P427: Beyond genomics: Using RNA-seq in filter cards to unlock the clinical relevance of noncoding variation in splicing by Ruslan Al-Ali, Mandy Radefeldt, Sabrina Lemke, Jorge Pinto-Basto, Peter Bauer

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P219: Genetic, biochemical and clinical properties of GLA p.Asp313Tyr variant in a large German cohort by Tobias Boettcher, Christian Beetz, Daniel Schulze, Deepa Saravanakumar, Emir Zonic, Sabine Schroeder, Anett Kaune, Omid Paknia, Jorge Pinto Basto, Peter Bauer

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P576: Impact of processed pseudogene insertions in genetic testing as cause of monogenic diseases: Insertion in CLCN1 gene causing myotonia congenita by Kornelia Tripolszki, Javier Martini, Kapil Kampe, Vasiliki Karageorgou, Mohamed Almuhaizea, Catarina Pereira, Stephanie Weissgraeber, Omid Paknia, Jorge Pinto-Basto, Peter Bauer

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P614: The clinical genome: Validation data beyond clinical exome by Kornelia Tripolszki, Melina Bilinski, Matthias Bieg, Anett Marais, Catarina Pereira, Javier Martini, Mukunth Sadagopan, Divine Lawir Fondzenyuy, Swathi Chinnappa, Stephanie Weissgraeber, Thomas Hackenberg, Chris Junghans, Johannes Numrich, Krishna Kumar Kandaswamy, Jorge Pinto-Basto, Peter Bauer, Omid Paknia

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Systematic gene-disease relationship (GDR) curation unveils 61 gene-disease associations and highlights the impact on genetic testing by Emir Zonic, Mariana Ferreira, Luba M. Pardo, Javier Martini, Maria Eugenia Rocha, Ruxandra Aanicai, Natalia Ordonez-Herrera, Deepa Saravanakumar, Ligia S. Almeida, Inês C. Fernandes, Nishtha Gulati, Sumanth Mannepalli, Amela Hercegovac, Ruslan Al-Ali, Catarina Pereira, Omid Paknia, Uros Hladnik, Peter Bauer, Jorge Pinto Basto, Aida M. Bertoli-Avella

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