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A nonsynonymous SNP in the ITGB3 gene disrupts the conserved membrane-proximal cytoplasmic salt bridge in the alphaIIbbeta3 integrin and cosegregates dominantly with abnormal proplatelet formation and macrothrombocytopenia.

Blood 111:3407-14 (2008)
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Kobayashi Y, Matsui H, Kanai A, Tsumura M, Okada S, Miki M, Nakamura K, Kunishima S, Inaba T, Kobayashi M

Identification of the integrin beta3 L718P mutation in a pedigree with autosomal dominant thrombocytopenia with anisocytosis.

Br J Haematol 160:521-9 (2013)
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