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

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

European Journal of Cell Biology · 2022 · 27 citations · 66 references

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