Varaico: Literature-Extracted Genetic Variants

Gene:RASGRP1
Variant:p.W257*
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RASGRP1

NM_005739.4:p.W257*

Associated Papers

Two Novel Biallelic RASGRP1 Mutations Presenting with Immunodeficiency, Hodgkin's Lymphoma, and Autoimmunity.

Momenilandi M et al.

Journal of Clinical Immunology, 2022

Clinical Validation of Targeted and Untargeted Metabolomics Testing for Genetic Disorders: A 3 Year Comparative Study.

Almontashiri NAM et al.

Scientific Reports, 2020

32523032 (PubMed )
Supplement: 41598_2020_66401_MOESM3_ESM.xlsx › Table_S2

Combined immunodeficiency with EBV positive B cell lymphoma and epidermodysplasia verruciformis due to a novel homozygous mutation in RASGRP1.

Platt CD et al.

Clinical Immunology (orlando, Fla.), 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."