P576: Impact of processed pseudogene insertions in genetic testing as cause of monogenic diseases: Insertion in CLCN1 gene causing myotonia congenita
| Title: | P576: Impact of processed pseudogene insertions in genetic testing as cause of monogenic diseases: Insertion in CLCN1 gene causing myotonia congenita |
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| Authors: | Tripolszki, Kornelia, Martini, Javier, Kampe, Kapil, Karageorgou, Vasiliki, Almuhaizea, Mohamed, Pereira, Catarina, Weissgraeber, Stephanie, Paknia, Omid, Pinto-Basto, Jorge, Bauer, Peter |
| Source: | In Genetics in Medicine Open 2023 1(1) Supplement |
| Database: | ScienceDirect |
| ISSN: | 29497744 |
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| DOI: | 10.1016/j.gimo.2023.100623 |
| Published in: | Genetics in Medicine Open |
| Language: | English |