Varaico: Literature-Extracted Genetic Variants

Gene:RASGRP2
Variant:p.K309*
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RASGRP2

NM_001098671.2:p.K309*

Associated Papers

RasGRP2 Structure, Function and Genetic Variants in Platelet Pathophysiology.

Canault M et al.

International Journal of Molecular Sciences, 2020

Molecular Diagnosis of Inherited Coagulation and Bleeding Disorders.

Bastida JM et al.

Seminars in Thrombosis and Hemostasis, 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

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

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

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."