Varaico: Literature-Extracted Genetic Variants

Gene:RASGRP2
Variant:p.P319L
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RASGRP2

NM_001098671.2:p.P319L

Associated Papers

Identification of novel RASGRP2 mutations in patients with platelet dysfunction.

Broojerdi MH et al.

Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis, 2025

Inherited Platelet Function Disorder From Novel Mutations in RAS Guanyl-Releasing Protein-2 Confirmed by Sanger Sequencing.

Al-Hebshi A

Cureus, 2020

A novel missense variant in the RASGRP2 gene in patients with moderate to severe bleeding disorder.

Alharby E et al.

Platelets, 2020

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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."