Frameshift mutation S368fs in the gene encoding cytoskeletal β-actin leads to ACTB-associated syndromic thrombocytopenia by impairing actin dynamics

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Authors: Johannes N. Greve; Frederic V. Schwäbe; Thomas Pokrant; Jan Faix; Nataliya Di Donato; Manuel H. Taft; Dietmar J. Manstein

Journal title: Crossref

Journal number: 1

Journal publisher: Elsevier GmbH

Published year: 2022

DOI identifier: 10.1016/j.ejcb.2022.151216