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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）

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Key words
TBCE,tubulin-specific chaperone E,splicing,out-of-frame translation,microtubule,tubulin,new phenotype
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