A family with the Arg103Pro mutation in the NEUROD1 gene detected by next-generation sequencing – Clinical characteristics of mutation carriers
| Autor: | Szopa, Magdalena, Ludwig-Galezowska, Agnieszka H., Radkowski, Piotr, Skupien, Jan, Machlowska, Julita, Klupa, Tomasz, Wolkow, Pawel, Borowiec, Maciej, Mlynarski, Wojciech, Malecki, Maciej T. |
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| Zdroj: | In European Journal of Medical Genetics February 2016 59(2):75-79 |
| Databáze: | ScienceDirect |
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