Varaico: Literature-Extracted Genetic Variants

Gene:TBXA2R
Variant:p.G56insFs
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TBXA2R

NM_001060.6:p.G56insFs

Associated Papers

The Co-Occurrence of Low-Frequency Pathogenic Variants in TBXA2R Exacerbating the Hemorrhagic Symptoms in Siblings with Hemophilia B.

Shimomura M et al.

Seminars in Thrombosis and Hemostasis, 2026

Molecular Pathogenesis of Inherited Platelet Dysfunction.

Rodríguez-Alén A et al.

Biomolecules, 2025

TBXA2R gene variants associated with bleeding.

Mundell SJ et al.

Platelets, 2018

Platelet dysfunction associated with the novel Trp29Cys thromboxane A₂ receptor variant.

Mumford AD et al.

Journal of Thrombosis and Haemostasis : Jth, 2013

Bleeding tendency and impaired platelet function in a patient carrying a heterozygous mutation in the thromboxane A2 receptor.

Kamae T et al.

Journal of Thrombosis and Haemostasis : Jth, 2011

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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."