Varaico: Literature-Extracted Genetic Variants

Gene:RAG1
Variant:p.R776W
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RAG1

NM_000448.3:p.R776W

Associated Papers

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

Karaatmaca B et al.

Clinical and Experimental Immunology, 2024

Mutational landscape of severe combined immunodeficiency patients from Turkey.

Firtina S et al.

International Journal of Immunogenetics, 2020

Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.

Suratannon N et al.

Frontiers in Immunology, 2020

32373116 (PubMed )
Supplement: Table_1.xlsx › Table_E1_Previously_diagnosed

Clinical, Immunological, and Molecular Features of Severe Combined Immune Deficiency: A Multi-Institutional Experience From India.

Vignesh P et al.

Frontiers in Immunology, 2020

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

A novel missense RAG-1 mutation results in T-B-NK+ SCID in Athabascan-speaking Dine Indians from the Canadian Northwest Territories.

Xiao Z et al.

European Journal of Human Genetics : Ejhg, 2009

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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."