Varaico: Literature-Extracted Genetic Variants

Gene:ITGB3
Variant:p.R93W
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ITGB3

NM_000212.3:p.R93W

Associated Papers

Congenital platelet disorders and understanding of platelet function.

Nurden AT et al.

British Journal of Haematology, 2014

Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models.

Nurden AT et al.

Blood, 2011

Advances in our understanding of the molecular basis of disorders of platelet function.

Nurden A et al.

Journal of Thrombosis and Haemostasis : Jth, 2011

Glanzmann thrombasthenia: an update.

Franchini M et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2010

Molecular diversity of Glanzmann thrombasthenia in southern India: new insights into mRNA splicing and structure-function correlations of alphaIIbbeta3 integrin (ITGA2B, ITGB3).

Peretz H et al.

Human Mutation, 2006

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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."