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

Out-of-frame Translation Rescues a Loss-of-function Variant in a Novel TBCE Phenotype

Peter Sparber, Evgeniia Ulas,Alexandra Filatova, Eugene Tatarskiy,Grigory Perelman,Nina Makretskaya,Elena Nagaeva,Maria Kareva,Elena Frolova,Natalia Kalinchenko, Anna Tvorogova, Sergey Golyshev,Anton Burakov,Vyacheslav Tabakov,Ekaterina Lozier,Fedor Konovalov, Victoria Voinova,Anatoly Tiulpakov,Mikhail Skoblov

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM（2024）

引用 0|浏览1
关键词
TBCE,tubulin-specific chaperone E,splicing,out-of-frame translation,microtubule,tubulin,new phenotype
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