Specific de novo variants in RNF213 cause a monogenic early-onset multisystemic disease ranging from childhood stroke to Leigh-like syndrome
Theresa Brunet,Victoria Lieftuechter,Dominic Lenz,Philipp Peters,Robert Kopajtich,Benedikt Zott,Hanna Zimmermann,Irina Huening,Diana Ballhausen,Christian Staufner,Alyssa Bianzano,Joanne Hughes,Robert Taylor,Robert McFarland,Tamara Zigman,Danijela Petkovic Ramadza,Rohlfs Meino,Ute Hehr,Neal Sondheimer,Stacy Hewson,Nikolaos Marinakis,Konstantina Kosma,Jan Traeger-Synodinos,Holger Prokisch,Thomas Meitinger,Ingo Borggraefe,Juliane Spiegler,Ivo Baric,Marco Paolini,Lucia Gerstl,Matias Wagner EUROPEAN JOURNAL OF HUMAN GENETICS(2023)
AI Read Science
Must-Reading Tree
Example
Generate MRT to find the research sequence of this paper