Varaico: Literature-Extracted Genetic Variants

Gene:ITGA2B
Variant:p.R887W
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ITGA2B

NM_000419.5:p.R887W

Associated Papers

[Effects of the ITGA2B Nonsense Mutation (c.2659C > T, p.Q887X) on Platelet Function in a Mouse Model of Glanzmann's Thrombasthenia Generated with CRISPR/Cas9 Technology].

Yang F et al.

Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2022

Novel homozygous silent mutation of ITGB3 gene caused Glanzmann thrombasthenia.

Wang Z et al.

Frontiers in Pediatrics, 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

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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."