P576: Impact of processed pseudogene insertions in genetic testing as cause of monogenic diseases: Insertion in CLCN1 gene causing myotonia congenita
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2023-01-01
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| Series: | Genetics in Medicine Open |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774423006234 |
| _version_ | 1797341982597578752 |
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| author | Kornelia Tripolszki Javier Martini Kapil Kampe Vasiliki Karageorgou Mohamed Almuhaizea Catarina Pereira Stephanie Weissgraeber Omid Paknia Jorge Pinto-Basto Peter Bauer |
| author_facet | Kornelia Tripolszki Javier Martini Kapil Kampe Vasiliki Karageorgou Mohamed Almuhaizea Catarina Pereira Stephanie Weissgraeber Omid Paknia Jorge Pinto-Basto Peter Bauer |
| author_sort | Kornelia Tripolszki |
| collection | DOAJ |
| first_indexed | 2024-03-08T10:26:51Z |
| format | Article |
| id | doaj.art-a3b5f4d75861402198201a97ae1c863a |
| institution | Directory Open Access Journal |
| issn | 2949-7744 |
| language | English |
| last_indexed | 2024-03-08T10:26:51Z |
| publishDate | 2023-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj.art-a3b5f4d75861402198201a97ae1c863a2024-01-27T07:09:54ZengElsevierGenetics in Medicine Open2949-77442023-01-0111100623P576: Impact of processed pseudogene insertions in genetic testing as cause of monogenic diseases: Insertion in CLCN1 gene causing myotonia congenitaKornelia Tripolszki0Javier Martini1Kapil Kampe2Vasiliki Karageorgou3Mohamed Almuhaizea4Catarina Pereira5Stephanie Weissgraeber6Omid Paknia7Jorge Pinto-Basto8Peter Bauer9CENTOGENE AG, Rostock, GermanyCENTOGENE AG, Rostock, GermanyCENTOGENE AG, Rostock, GermanyCENTOGENE AG, Rostock, GermanyKing Faisal Specialist Hospital & Research Center (KFSH & RC)/RiyadhCENTOGENE AG, Rostock, GermanyCENTOGENE AG, Rostock, GermanyCENTOGENE AG, Rostock, GermanyCENTOGENE AG, Rostock, GermanyCENTOGENE AG, Rostock, Germanyhttp://www.sciencedirect.com/science/article/pii/S2949774423006234 |
| spellingShingle | Kornelia Tripolszki Javier Martini Kapil Kampe Vasiliki Karageorgou Mohamed Almuhaizea Catarina Pereira Stephanie Weissgraeber Omid Paknia Jorge Pinto-Basto Peter Bauer P576: Impact of processed pseudogene insertions in genetic testing as cause of monogenic diseases: Insertion in CLCN1 gene causing myotonia congenita Genetics in Medicine Open |
| title | P576: Impact of processed pseudogene insertions in genetic testing as cause of monogenic diseases: Insertion in CLCN1 gene causing myotonia congenita |
| title_full | P576: Impact of processed pseudogene insertions in genetic testing as cause of monogenic diseases: Insertion in CLCN1 gene causing myotonia congenita |
| title_fullStr | P576: Impact of processed pseudogene insertions in genetic testing as cause of monogenic diseases: Insertion in CLCN1 gene causing myotonia congenita |
| title_full_unstemmed | P576: Impact of processed pseudogene insertions in genetic testing as cause of monogenic diseases: Insertion in CLCN1 gene causing myotonia congenita |
| title_short | P576: Impact of processed pseudogene insertions in genetic testing as cause of monogenic diseases: Insertion in CLCN1 gene causing myotonia congenita |
| title_sort | p576 impact of processed pseudogene insertions in genetic testing as cause of monogenic diseases insertion in clcn1 gene causing myotonia congenita |
| url | http://www.sciencedirect.com/science/article/pii/S2949774423006234 |
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