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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

Kornelia Tripolszki,Javier Martini,Kapil Kampe,Vasiliki Karageorgou,Mohamed Almuhaizea,Catarina Pereira, Stephanie Weissgraeber,Omid Paknia,Jorge Pinto-Basto,Peter Bauer

Genetics in Medicine Open（2023）

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clcn1 pseudogene,monogenic diseases,pseudogene insertions,genetic testing
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