Out-of-frame translation rescues a loss-of-function variant in a novel TBCE phenotype

Pathogenic variants in the TBCE gene, encoding tubulin-specific chaperone E crucial for tubulin folding, are linked to three severe neurodevelopmental disorders: Hypoparathyroidism-retardation-dysmorphism (HRD) syndrome, Kenny-Caffey syndrome type 1, and progressive encephalopathy with amyotrophy an...

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Veröffentlicht in:	The journal of clinical endocrinology and metabolism 2024-12
Hauptverfasser:	Sparber, Peter, Ulas, Evgeniia, Filatova, Alexandra, Tatarskiy, Eugene, Perelman, Grigory, Makretskaya, Nina, Nagaeva, Elena, Kareva, Maria, Frolova, Elena, Kalinchenko, Natalia, Tvorogova, Anna V, Golyshev, Sergey, Burakov, Anton, Tabakov, Vyacheslav, Lozier, Ekaterina, Konovalov, Fedor, Voinova, Victoria, Tiulpakov, Anatoliy, Skoblov, Mikhail
Format:	Artikel
Sprache:	eng
Online-Zugang:	Volltext
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