Associated Papers
Compromised actin dynamics underlie the orofacial cleft in Baraitser-Winter Cerebrofrontofacial syndrome with a variant in ACTB.
Tsujimoto T et al.
Human Molecular Genetics, 2024
Further delineation of putative ACTB loss-of-function variants: A 4-patient series.
Baumann M et al.
Human Mutation, 2020
Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia.
Latham SL et al.
Nature Communications, 2018
Child with cerebral malformations and epilepsy.
Sun Y et al.
The International Journal of Neuroscience, 2018
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
Verloes A et al.
European Journal of Human Genetics : Ejhg, 2015
Alterations in gamma-actin and tubulin-targeted drug resistance in childhood leukemia.
Verrills NM et al.
Journal of the National Cancer Institute, 2006
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