Frameshift Mutation S368fs in the Gene Encoding Cytoskeletal 13-Actin Leads to ACTB-associated Syndromic Thrombocytopenia by Impairing Actin Dynamics
EUROPEAN JOURNAL OF CELL BIOLOGY(2022)
关键词
Actinopathy,Allostery,Cofilin,Cytoskeleton,Myosin,Profilin
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