Biallelic NDC1 Variants That Interfere with ALADIN Binding Are Associated with Neuropathy and Triple-A-like Syndrome
Daphne J. Smits,Jordy Dekker,Hannie Douben,Rachel Schot,Helen Magee,Somayeh Bakhtiari,Katrin Koehler,Angela Huebner,Markus Schuelke,Hossein Darvish,Shohreh Vosoogh,Abbas Tafakhori,Melika Jameie,Ehsan Taghiabadi,Yana Wilson,Margit Shah,Marjon A. van Slegtenhorst, Evita G. Medici-van den Herik,Tjakko J. van Ham,Michael C. Kruer,Grazia M. S. Mancini HUMAN GENETICS AND GENOMICS ADVANCES（2024）
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NDC1,ALADIN,Triple-A syndrome,nuclear pore complex,peripheral neuropathy
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