Varaico: Literature-Extracted Genetic Variants

Gene:GP6
Variant:p.E237insFs
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GP6

NM_016363.5:p.E237insFs

Associated Papers

Introduction of an ancient founder glycoprotein VI mutation into the Chilean population.

Dalby A et al.

Blood Advances, 2022

Flow studies on human GPVI-deficient blood under coagulating and noncoagulating conditions.

Nagy M et al.

Blood Advances, 2020

Congenital platelet disorders and understanding of platelet function.

Nurden AT et al.

British Journal of Haematology, 2014

An adenine insertion in exon 6 of human GP6 generates a truncated protein associated with a bleeding disorder in four Chilean families.

Matus V et al.

Journal of Thrombosis and Haemostasis : Jth, 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."