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pro vyhledávání: '"Tony Koehler"'
Autor:
Marcel Proske, Robert Janowski, Sabrina Bacher, Hyun-Seo Kang, Thomas Monecke, Tony Koehler, Saskia Hutten, Jana Tretter, Anna Crois, Lena Molitor, Alejandro Varela-Rial, Roberto Fino, Elisa Donati, Gianni De Fabritiis, Dorothee Dormann, Michael Sattler, Dierk Niessing
Publikováno v:
eLife, Vol 13 (2024)
Mutations in the human PURA gene cause the neurodevelopmental PURA syndrome. In contrast to several other monogenetic disorders, almost all reported mutations in this nucleic acid-binding protein result in the full disease penetrance. In this study,
Externí odkaz:
https://doaj.org/article/13d881e49c7c4676869b2c6bc60d831e
