Varaico: Literature-Extracted Genetic Variants

Gene:ITGB3
Variant:p.C210S
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ITGB3

NM_000212.3:p.C210S

Associated Papers

Clinical Characteristics and Molecular Genetic Analysis of a Pedigree with Glanzmann's Thrombasthenia.

Zhu Q et al.

Alternative Therapies in Health and Medicine, 2024

Specifications of the variant curation guidelines for ITGA2B/ITGB3: ClinGen Platelet Disorder Variant Curation Panel.

Ross JE et al.

Blood Advances, 2021

Profiling the Genetic and Molecular Characteristics of Glanzmann Thrombasthenia: Can It Guide Current and Future Therapies?

Nurden A

Journal of Blood Medicine, 2021

A Glanzmann thrombasthenia family associated with a TUBB1-related macrothrombocytopenia.

Guillet B et al.

Journal of Thrombosis and Haemostasis : Jth, 2019

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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."