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OALib Journal期刊
ISSN: 2333-9721
费用：99美元
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De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome
DOI: 10.1016/j.ajhg.2019.03.016
Alexander P. Drew, Amber Begtrup, Andre E. Minoche, Angeles Schteinschnaider, Ann Bye, Antonio Vitobello, Christel Thauvin, Clare Puttick, Edwin P. Kirk, Elizabeth E. Palmer, Fajr A. Aleisa, Fatema Al Zahrani, Fowzan S. Alkuraya, Heba M. Jalal Ahmed, Jasmeen Merzaban, Jill A. Rosenfeld, Kristin Lindstrom, Laurence Faivre, Lindsay B. Henderson, Mais O. Hashem, Marcel Dinger, Maria J. Guillen Sacoto, Marilyn C. Jones, Marisa V. Andrews, Mariusz Jaremko, Mark J. Cowley, Marwan Shinawi, Mar？á Mercedes Villanueva, Megan T. Cho, Molly Snyder, Muddathir Hamad, Rani K. Sachdev, Rebecca Macintosh, Rui Xiao, Ruth E. Bristol, Saima Kayani, Seungbeom Hong, Suliat F. Yakubu, Tejaswi Kandula, Tony Roscioli, Velimir Gayevskiy, ？ukasz Jaremko
Abstract:
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