Missense variant in TTBK2 kinase domain causes loss of function and impaired protein phosphorylation

Daniela Felício, Hugo Osório, Conceição Pereira, Ana Filipa Brandão, João Parente Freixo, Inês Carvalho, Ana Paula Sousa, Margarida Castro-Caldas, Jorge Sequeiros, Carolina Lemos, Mariana Santos
Scientific Reports. 2025-12-21; 16(1):
DOI: 10.1038/s41598-025-32288-0

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