Varaico: Literature-Extracted Genetic Variants

Gene:RAG1
Variant:p.R776Q
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RAG1

NM_000448.3:p.R776Q

Associated Papers

Recombinase Activating Gene 1 Deficiencies Without Omenn Syndrome May Also Present With Eosinophilia and Bone Marrow Fibrosis.

Ulusoy E et al.

Journal of Clinical Medicine Research, 2016

Understanding V(D)J recombination initiator RAG1 gene using molecular phylogenetic and genetic variant analyses and upgrading missense and non-coding variants of clinical importance.

Kumar A et al.

Biochemical and Biophysical Research Communications, 2015

Crystal structure of the V(D)J recombinase RAG1-RAG2.

Kim MS et al.

Nature, 2015

Novel mutatıons and diverse clinical phenotypes in recombinase-activating gene 1 deficiency.

Kutukculer N et al.

Italian Journal of Pediatrics, 2012

Diverse phenotypic and genotypic presentation of RAG1 mutations in two cases with SCID.

Karaca NE et al.

Clinical and Experimental Medicine, 2009

GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes.

Haq IJ et al.

Clinical Immunology (orlando, Fla.), 2007

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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."