Varaico: Literature-Extracted Genetic Variants

Gene:ITGB3
Variant:p.R131P
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ITGB3

NM_000212.3:p.R131P

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

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

Abnormal whole blood thrombi in humans with inherited platelet receptor defects.

Castellino FJ et al.

Plos One, 2012

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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."