Varaico: Literature-Extracted Genetic Variants

Gene:RAG1
Variant:p.C481C
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RAG1

NM_000448.3:p.C481C

Associated Papers

Heterogeneity in RAG1 and RAG2 deficiency: 35 cases from a single-centre.

Karaatmaca B et al.

Clinical and Experimental Immunology, 2024

Arthritis in Two Patients With Partial Recombination Activating Gene Deficiency.

Wu KY et al.

Frontiers in Pediatrics, 2019

Investigation of Genetic Defects in Severe Combined Immunodeficiency Patients from Turkey by Targeted Sequencing.

Erman B et al.

Scandinavian Journal of Immunology, 2017

Data on the evolutionary history of the V(D)J recombination-activating protein 1 - RAG1 coupled with sequence and variant analyses.

Kumar A et al.

Data in Brief, 2016

27284568 (PubMed )
Supplement: mmc2.pdf

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

V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.

Villa A et al.

Blood, 2001

The genetic and biochemical basis of Omenn syndrome.

Santagata S et al.

Immunological Reviews, 2000

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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."