Associated Papers
TBCK syndrome pathogenesis: the TBCK-PPP1R21-C12orf4 complex regulating RAB5-dependent endo-lysosomal homeostasis.
Wang Y et al.
Science Bulletin, 2025
Multiple functions of TBCK protein in neurodevelopment disorders and tumors.
Wu J et al.
Oncology Letters, 2021
Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families.
Hartley T et al.
Clinical Genetics, 2018
Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia.
Bhoj EJ et al.
American Journal of Human Genetics, 2016
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