Varaico: Literature-Extracted Genetic Variants

Gene:P2RY12
Variant:p.T126fs
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P2RY12

NM_022788.5:p.T126fs

Associated Papers

Molecular Pathogenesis of Inherited Platelet Dysfunction.

Rodríguez-Alén A et al.

Biomolecules, 2025

Severe bleeding and absent ADP-induced platelet aggregation associated with inherited combined CalDAG-GEFI and P2Y12 deficiencies.

Lunghi B et al.

Haematologica, 2020

RasGRP2 Structure, Function and Genetic Variants in Platelet Pathophysiology.

Canault M et al.

International Journal of Molecular Sciences, 2020

P2Y₁₂ receptor gene mutations associated with bleeding.

Scavone M et al.

Platelets, 2017

Molecular defects of the platelet P2 receptors.

Cattaneo M

Purinergic Signalling, 2011

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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."