Varaico: Literature-Extracted Genetic Variants

Gene:ITGB3
Variant:p.C575R
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ITGB3

NM_000212.3:p.C575R

Associated Papers

Acquired Antibodies to αIIbβ3 in Glanzmann Thrombasthenia: From Transfusion and Pregnancy to Bone Marrow Transplants and Beyond.

Nurden AT

Transfusion Medicine Reviews, 2018

ITGA2B and ITGB3 gene mutations associated with Glanzmann thrombasthenia.

Nurden AT et al.

Platelets, 2018

Expanding the Mutation Spectrum Affecting αIIbβ3 Integrin in Glanzmann Thrombasthenia: Screening of the ITGA2B and ITGB3 Genes in a Large International Cohort.

Nurden AT et al.

Human Mutation, 2015

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

Molecular analysis of a patient with type I Glanzmann thrombasthenia and clinical impact of the presence of anti-αIIbβ3 alloantibodies.

Kashiwagi H et al.

International Journal of Hematology, 2011

Glanzmann thrombasthenia: an update.

Franchini M et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2010

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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."