Varaico: Literature-Extracted Genetic Variants

Gene:RAG1
Variant:p.R829_K830delins
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RAG1

NM_000448.3:p.R829_K830delins

Associated Papers

Reducing Mortality and Morbidity in Children with Severe Combined Immunodeficiency in Switzerland: the Role of Newborn Screening.

Soomann M et al.

Journal of Clinical Immunology, 2024

Genetic Testing in Egyptian Patients with Inborn Errors of Immunity: a Single-Center Experience.

El Hawary RE et al.

Journal of Clinical Immunology, 2022

The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries.

Sharapova SO et al.

Frontiers in Immunology, 2020

32655540 (PubMed )
Supplement: Table_1.xlsx › RAG1

Genetic Counseling in Primary Immunodeficiency Disorders: An Emerging Experience in Egypt.

El Hawary RE et al.

Molecular Diagnosis & Therapy, 2017

Mutations in Recombination Activating Gene 1 and 2 in patients with severe combined immunodeficiency disorders in Egypt.

Meshaal S et al.

Clinical Immunology (orlando, Fla.), 2015

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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."