Varaico: Literature-Extracted Genetic Variants

Gene:RASGRP2
Variant:p.L360del1
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RASGRP2

NM_001098671.2:p.L360del1

Associated Papers

Inherited platelet disorders: From new variants to new knowledge.

Pluthero FG et al.

British Journal of Haematology, 2022

RasGRP2 Structure, Function and Genetic Variants in Platelet Pathophysiology.

Canault M et al.

International Journal of Molecular Sciences, 2020

Hereditary platelet function disorder from RASGRP2 gene mutations encoding CalDAG-GEFI identified by whole-exome sequencing in a Korean woman with severe bleeding.

Yun JW et al.

Haematologica, 2019

Identification of two novel mutations in RASGRP2 affecting platelet CalDAG-GEFI expression and function in patients with bleeding diathesis.

Sevivas T et al.

Platelets, 2018

Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding.

Westbury SK et al.

Blood, 2017

Human CalDAG-GEFI deficiency increases bleeding and delays αIIbβ3 activation.

Kato H et al.

Blood, 2016

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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."