Varaico: Literature-Extracted Genetic Variants

Gene:ITGB3
Variant:p.R662C
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ITGB3

NM_000212.3:p.R662C

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

Two homozygous missense mutations in ITGB3 gene as a cause of Glanzmann Thrombasthenia in four consanguineous Pakistani pedigrees.

Ali T et al.

International Journal of Laboratory Hematology, 2020

Recent advances in understanding the clinical relevance of antiplatelet alloantibodies.

Guz K et al.

Polish Archives of Internal Medicine, 2017

A point mutation in the EGF-4 domain of β(3) integrin is responsible for the formation of the Sec(a) platelet alloantigen and affects receptor function.

Sachs UJ et al.

Thrombosis and Haemostasis, 2012

Simultaneous genotyping of human platelet antigen-1 to 17w by polymerase chain reaction sequence-based typing.

Xu X et al.

Vox Sanguinis, 2009

Molecular typing of human platelet antigens in immune thrombocytopenia patients in northern Brazil.

Carmo JCD et al.

Revista Brasileira De Hematologia E Hemoterapia, 0

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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."