Associated Papers
TBCK syndrome pathogenesis: the TBCK-PPP1R21-C12orf4 complex regulating RAB5-dependent endo-lysosomal homeostasis.
Wang Y et al.
Science Bulletin, 2025
Cardiac Involvement and TBCK -Related Neurodevelopmental Disorder: Is It a New Feature of This Condition?
Mastromoro G et al.
American Journal of Medical Genetics. Part A, 2025
Multiple functions of TBCK protein in neurodevelopment disorders and tumors.
Wu J et al.
Oncology Letters, 2021
Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.
Chong JX et al.
American Journal of Human Genetics, 2016
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