Varaico: Literature-Extracted Genetic Variants

Gene:ITGB3
Variant:p.R242*
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ITGB3

NM_000212.3:p.R242*

Associated Papers

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.

Stefanucci L et al.

Blood, 2023

37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.3

SINE-VNTR-Alu retrotransposon insertion as a novel mutational event underlying Glanzmann thrombasthenia.

Zhang J et al.

Journal of Thrombosis and Haemostasis : Jth, 2023

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."