Varaico: Literature-Extracted Genetic Variants

Gene:ITGB3
Variant:p.C568R
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ITGB3

NM_000212.3:p.C568R

Associated Papers

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

Ross JE et al.

Blood Advances, 2021

ITGA2B and ITGB3 gene mutations associated with Glanzmann thrombasthenia.

Nurden AT et al.

Platelets, 2018

Should studies on Glanzmann thrombasthenia not be telling us more about cardiovascular disease and other major illnesses?

Nurden AT

Blood Reviews, 2017

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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."