A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome
Titel:
A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome
Auteur:
White, Susan M. Bhoj, Elizabeth Nellåker, Christoffer Lachmeijer, Augusta M.A. Marshall, Aren E. Boycott, Kym M. Li, Dong Smith, Wendy Hartley, Taila McBride, Arran Ernst, Michelle E. May, Alison S. Wieczorek, Dagmar Abou Jamra, Rami Koch-Hogrebe, Margarete Õunap, Katrin Pajusalu, Sander van Gassen, K.L.I. Sadedin, Simon Ellingwood, Sara Tan, Tiong Yang Christodoulou, John Barea, Jaime Lockhart, Paul J. Nezarati, Marjan M. Kernohan, Kristin D.