Rare variants in $\textit{GP1BB}$ are responsible for autosomal dominant macrothrombocytopenia
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The von Willebrand receptor complex, which is composed of the glycoproteins Ibα, Ibβ, GPV, and GPIX, plays an essential role in the earliest steps in hemostasis. During the last 4 decades, it has become apparent that loss of function of any 1 of 3 of the genes encoding these glycoproteins (namely,
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1528-0020
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Medical Research Council (MR/L003120/1)
British Heart Foundation (None)
British Heart Foundation (None)