Varaico: Literature-Extracted Genetic Variants

Gene:RASGRP2
Variant:p.R494fs
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RASGRP2

NM_001098671.2:p.R494fs

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

Novel RASGRP2 variants in platelet function defects: Indian study.

Kawankar N et al.

British Journal of Haematology, 2022

Mutations in RASGRP2 gene identified in patients misdiagnosed as Glanzmann thrombasthenia patients.

Rosenberg N et al.

Blood Cells, Molecules & Diseases, 2021

Genetic Confirmation and Identification of Novel Variants for Glanzmann Thrombasthenia and Other Inherited Platelet Function Disorders: A Study by the Korean Pediatric Hematology Oncology Group (KPHOG).

Yang EJ et al.

Genes, 2021

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

Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders.

Romasko EJ et al.

American Journal of Hematology, 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."