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Functional studies of novel ACTN1 variants.
ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization by Roberta Bottega, Caterina Marconi, Michela Faleschini, Gabriele Baj, Claudia Cagioni, Alessandro Pecci, Tommaso Pippucci, Ugo Ramenghi, Simonetta Pardini, Loretta Ngu, Carlo Baronci, Shinji Kunishima, Carlo L. Balduini, Marco Seri, Anna Savoia, and Patrizia Noris Blood Volume 125(5):869-872 January 29, 2015 ©2015 by American Society of Hematology Functional studies of novel ACTN1 variants. Roberta Bottega et al. Blood 2015;125:869-872 ©2015 by American Society of Hematology