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Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia.

Latham SL, Ehmke N, Reinke PYA, Taft MH, Eicke D, Reindl T, Stenzel W, Lyons MJ, Friez MJ, Lee JA, Hecker R, Fr?hwald MC, Becker K, Neuhann TM, Horn D, Schrock E, Niehaus I, Sarnow K, Gr?tzmann K, Gawehn L, Klink B, Rump A, Chaponnier C, Figueiredo C, Kn?fler R, Manstein DJ, Di Donato N. Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia. Nat Commun. 2018 10 12; 9(1):4250.

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