Varaico: Literature-Extracted Genetic Variants

Gene:ITGA2B
Variant:p.L214R
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ITGA2B

NM_000419.5:p.L214R

Associated Papers

Insights for variant clinical interpretation based on a benchmark of 65 variant effect predictors.

Radjasandirane R et al.

Genomics, 2025

Glanzmann thrombasthenia in Pakistan: molecular analysis and identification of novel mutations.

Haghighi A et al.

Clinical Genetics, 2016

Glanzmann thrombasthenia: state of the art and future directions.

Nurden AT et al.

Seminars in Thrombosis and Hemostasis, 2013

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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."