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Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome |
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| Authors: | Varon Raymonda Gooding Rebecca Steglich Christina Marns Lorna Tang Hua Angelicheva Dora Yong Kiau Kiun Ambrugger Petra Reinhold Anke Morar Bharti Baas Frank Kwa Marcel Tournev Ivailo Guerguelcheva Velina Kremensky Ivo Lochmüller Hanns Müllner-Eidenböck Andrea Merlini Luciano Neumann Luitgard Bürger Joachim Walter Maggie Swoboda Kathryn Thomas P K von Moers Arpad Risch Neil Kalaydjieva Luba |
| Institution: | Institute of Human Genetics, Charité, Humboldt University, Berlin, Germany. |
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| 本文献已被 PubMed 等数据库收录！ | |