Varaico: Literature-Extracted Genetic Variants

Gene:RASGRP1
Variant:p.P242P
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RASGRP1

NM_005739.4:p.P242P

Associated Papers

First allogeneic hematopoietic stem cell transplantation in RASGRP1 deficiency: long-term follow-up.

Kuskonmaz B et al.

Bone Marrow Transplantation, 2022

Novel Mutations in RASGRP1 are Associated with Immunodeficiency, Immune Dysregulation, and EBV-Induced Lymphoma.

Somekh I et al.

Journal of Clinical Immunology, 2018

RASGRP1 deficiency causes immunodeficiency with impaired cytoskeletal dynamics.

Salzer E et al.

Nature Immunology, 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."