Varaico: Literature-Extracted Genetic Variants

Gene:RAG2
Variant:p.W307*
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RAG2

NM_000536.4:p.W307*

Associated Papers

Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.

Chan KW et al.

Frontiers in Immunology, 2022

35874699 (PubMed )
Supplement: Table_2.xlsx › Suppl_table_2

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

Vignesh P et al.

Frontiers in Immunology, 2020

Predicting the Occurrence of Variants in RAG1 and RAG2.

Lawless D et al.

Journal of Clinical Immunology, 2019

Recombination activity of human recombination-activating gene 2 (RAG2) mutations and correlation with clinical phenotype.

Tirosh I et al.

The Journal of Allergy and Clinical Immunology, 2019

Infectious and non-infectious complications in primary immunodeficiency disorders: an autopsy study from North India.

Gupta K et al.

Journal of Clinical Pathology, 2018

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

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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."