Varaico: Literature-Extracted Genetic Variants

Gene:ITGB3
Variant:p.C624Y
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ITGB3

NM_000212.3:p.C624Y

Associated Papers

ITGA2B and ITGB3 gene mutations associated with Glanzmann thrombasthenia.

Nurden AT et al.

Platelets, 2018

Should studies on Glanzmann thrombasthenia not be telling us more about cardiovascular disease and other major illnesses?

Nurden AT

Blood Reviews, 2017

Natural history of platelet antibody formation against αIIbβ3 in a French cohort of Glanzmann thrombasthenia patients.

Fiore M et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2012

A unique combination of inhibitory and partially activating mutations in beta3 of a patient with variant-type Glanzmann thrombasthenia.

Nurden AT et al.

Platelets, 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."