De novo variants in DENND5B perturb intracellular vesicular trafficking and cause neurodevelopmental disorders with epilepsy and white matter abnormalitiesMarcello Scala,Valeria Tomati,Julie Cohen,Ali Fatemi,Elly Brokamp,John Phillips,Mary Koziura,Michael Nicouleau,Marlene Rio,Nathalie Boddaert,Michele Iacomino,Ilaria Musante,Paolo Scudieri,Simona Baldassari,Jill A. Rosenfeld,Jon Bernstein,Gary Bellus,Sara Reed,Hind Al Saif,Rossana Sanchez, Matthew Walsh,Vincent Cantagrel,Pasquale Striano,Vincenzo Salpietro,Nicoletta Pedemonte,Federico ZaraEUROPEAN JOURNAL OF HUMAN GENETICS(2024)引用 0|浏览18暂无评分AI 理解论文溯源树样例生成溯源树,研究论文发展脉络Chat Paper正在生成论文摘要