Varaico: Literature-Extracted Genetic Variants

Gene:RASGRP2
Variant:p.G305D
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RASGRP2

NM_001098671.2:p.G305D

Associated Papers

Novel RASGRP2 variants in platelet function defects: Indian study.

Kawankar N et al.

British Journal of Haematology, 2022

Inherited platelet disorders: From new variants to new knowledge.

Pluthero FG et al.

British Journal of Haematology, 2022

Subcellular localization of Rap1 GTPase activator CalDAG-GEFI is orchestrated by interaction of its atypical C1 domain with membrane phosphoinositides.

Sarker M et al.

Journal of Thrombosis and Haemostasis : Jth, 2020

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

Recent advances in inherited platelet disorders.

Pluthero FG et al.

Current Opinion in Hematology, 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

Marked bleeding diathesis in patients with platelet dysfunction due to a novel mutation in RASGRP2, encoding CalDAG-GEFI (p.Gly305Asp).

Bermejo E et al.

Platelets, 2018

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

Westbury SK et al.

Blood, 2017

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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."