Systematic evaluation of EHMT1 protein altering variants uncovers unexpected insights on EHMT1 functions and Kleefstra syndrome pathogenesis
Dmitrijs Rots,Ayumi Yamada,Aidin Foroutan,Haley McCon-Key,Jennifer Kerkhof,Marielle Alders,Isabelle Maystadt,Simon Holden,Meena Balasubramanian,Giuseppe Merla,Gijs San-Ten,Alyce Belonis,Arianne Bouman,Joost Kummeling,Malou Heijligers,Mieke Van Haelst,Michael Parker,Soo-Mi Park, Kay Metcalfe,David Genevieve,Nicolas Chatron,Audrey Putoux,Laurent Pasquier,Christele Dubourg, Gertrud Strobl-Wildemann,Astrid Plomp,Maaike Vreeburg,Diana Baralle,Nicola Foulds,Ingrid Scurr,Gerarda Cappuccio,Nicola Brunetti-Pierri, Annet Van Hagen,Emilia K. Bijlsma,Helen Firth,Francesca Forzano,Louisa Kalsner,Janna A. Hol,Carolina Courage, Els Vanhoutte, Siddharth Banka,Hanka Venselaar,N. Nadif Kasri,Hans van Bokhoven,Han Brunner,Lisenka Vissers,Yoichi Shinkai,Bekim Sadikovic,Tjitske Kleefstra EUROPEAN JOURNAL OF HUMAN GENETICS(2023)
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