Evidence of Pathogenicity for the Leaky Splice Variant c.1066-6T>G in ATM in a Patient with Variant Ataxia Telangiectasia
| Autor: | Simone Schröder, Janine Altmüller, Britta Wieland, Eugen Boltshauser, Thilo Dörk, Andreas Ohlenbusch, Gökhan Yigit, Knut Brockmann |
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| Rok vydání: | 2021 |
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| Zdroj: | Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics. |
| ISSN: | 1439-1899 |
| Databáze: | OpenAIRE |
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