谷歌浏览器插件
订阅小程序
在清言上使用
VIPCreated with Sketch.

Novel Loss of Function Variant in BCKDK Causes a Treatable Developmental and Epileptic Encephalopathy

Francois Boemer,Claire Josse,Geraldine Luis,Emmanuel Di Valentin,Jerome Thiry, Christophe Cello,Jean-Hubert Caberg, Caroline Dadoumont,Julie Harvengt,Aime Lumaka,Vincent Bours,Francois-Guillaume Debray

International Journal of Molecular Sciences（2022）

引用 6|浏览40
关键词
BCKDK deficiency,branched-chain amino acids,autism,epilepsy,newborn screening
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