Novel frameshift variant of NHLRC1 gene in compound heterozygosity in an adult Greek patient with Lafora disease
| Autor: | Afrantou, Theodora *, Lagoudaki, Roza, Papadopoulos, Theofanis, Karayannopoulou, Georgia, Galidis, Eleftherios, Migkos, Konstantinos, Stavridou, Eleni, Kimiskidis, Vasilios, Ioannidis, Panagotis, Grigoriadis, Nikolaos |
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| Zdroj: | In Seizure: European Journal of Epilepsy March 2021 86:49-51 |
| Databáze: | ScienceDirect |
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