Varaico: Literature-Extracted Genetic Variants

Gene:RASGRP2
Variant:p.F497delFs
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RASGRP2

NM_001098671.2:p.F497delFs

Associated Papers

RasGRP2 Structure, Function and Genetic Variants in Platelet Pathophysiology.

Canault M et al.

International Journal of Molecular Sciences, 2020

Impaired hemostatic activity of healthy transfused platelets in inherited and acquired platelet disorders: Mechanisms and implications.

Lee RH et al.

Science Translational Medicine, 2019

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

Phenotype analysis and clinical management in a large family with a novel truncating mutation in RASGRP2, the CalDAG-GEFI encoding gene.

Desai A et al.

Research and Practice in Thrombosis and Haemostasis, 2017

Inherited disorders of platelet function: selected updates.

Nurden AT et al.

Journal of Thrombosis and Haemostasis : Jth, 2015

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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."