Varaico: Literature-Extracted Genetic Variants

Gene:ITGA2B
Variant:p.V420V
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ITGA2B

NM_000419.5:p.V420V

Associated Papers

[Molecular analysis of gene mutations in eight patients with Glanzmann's thrombasthenia].

Miao LZ et al.

Zhonghua Yi Xue Za Zhi, 2018

AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function.

Jallu V et al.

Human Mutation, 2010

Molecular diversity of Glanzmann thrombasthenia in southern India: new insights into mRNA splicing and structure-function correlations of alphaIIbbeta3 integrin (ITGA2B, ITGB3).

Peretz H et al.

Human Mutation, 2006

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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."