Varaico: Literature-Extracted Genetic Variants

Gene:ITGA2B
Variant:p.S756S
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ITGA2B

NM_000419.5:p.S756S

Associated Papers

Eptifibatide-induced thrombocytopenia and thrombosis in humans require FcgammaRIIa and the integrin beta3 cytoplasmic domain.

Gao C et al.

The Journal of Clinical Investigation, 2009

Mutations in the beta3 gene giving rise to type I Glanzmann thrombasthenia in two families in Portugal.

Garcia LC et al.

Platelets, 2004

Truncation of the cytoplasmic domain of beta3 in a variant form of Glanzmann thrombasthenia abrogates signaling through the integrin alpha(IIb)beta3 complex.

Wang R et al.

The Journal of Clinical Investigation, 1997

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."