Varaico: Literature-Extracted Genetic Variants

Gene:RASGRP2
Variant:p.G493insFs
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RASGRP2

NM_001098671.2:p.G493insFs

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

FarGen: Elucidating the distribution of coding variants in the isolated population of the Faroe Islands.

Mortensen Ó et al.

European Journal of Human Genetics : Ejhg, 2023

Novel RASGRP2 variants in platelet function defects: Indian study.

Kawankar N et al.

British Journal of Haematology, 2022

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

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

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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."