Varaico: Literature-Extracted Genetic Variants

Gene:RAG1
Variant:p.K830*
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RAG1

NM_000448.3:p.K830*

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

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

Molecular Characteristics, Clinical and Immunologic Manifestations of 11 Children with Omenn Syndrome in East Slavs (Russia, Belarus, Ukraine).

Sharapova SO et al.

Journal of Clinical Immunology, 2016

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

RAG-dependent primary immunodeficiencies.

Sobacchi C et al.

Human Mutation, 2006

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."