Varaico: Literature-Extracted Genetic Variants

Gene:ITGA2B
Variant:p.Q891*
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ITGA2B

NM_000419.5:p.Q891*

Associated Papers

Iron deficiency anemia and bleeding management in pediatric patients with Bernard-Soulier syndrome and Glanzmann Thrombasthenia: A single-institution analysis.

Lee A et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2022

Nonsense-mediated mRNA decay efficiency influences bleeding severity in ITGA2B c.2659C > T (p.Q887X) knock-in mice.

Xie Z et al.

Clinical Genetics, 2021

Clinical and molecular insights into Glanzmann's thrombasthenia in China.

Zhou L et al.

Clinical Genetics, 2018

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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."