Varaico: Literature-Extracted Genetic Variants

Gene:GP1BA
Variant:p.L179del1
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GP1BA

NM_000173.7:p.L179del1

Associated Papers

Gene of the issue: GP1BA gene mutations associated with bleeding.

Othman M et al.

Platelets, 2017

Spectrum of the mutations in Bernard-Soulier syndrome.

Savoia A et al.

Human Mutation, 2014

Crystal structure of the platelet glycoprotein Ib(alpha) N-terminal domain reveals an unmasking mechanism for receptor activation.

Uff S et al.

The Journal of Biological Chemistry, 2002

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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."