Variants in TBCK cause Global Developmental Delay, Dysmorphism, Hypotonia
نویسندگان
چکیده
A protein kinase domain, a Rhodanase-like and the Tre-2/Bub2/Cdc16 (TBC) domain are all encoded by TBCK gene. By modulating mammalian target of rapamycin (mTOR) signaling pathway, is hypothesized to play role in actin organization, cell growth, proliferation. Has organization cytoskeleton.
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ژورنال
عنوان ژورنال: International journal of pediatric research
سال: 2022
ISSN: ['2469-5769']
DOI: https://doi.org/10.23937/2469-5769/1510095