Varaico: Literature-Extracted Genetic Variants

Gene:RAG1
Variant:p.E722Q
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RAG1

NM_000448.3:p.E722Q

Associated Papers

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

Late-onset combined immune deficiency associated to skin granuloma due to heterozygous compound mutations in RAG1 gene in a 14 years old male.

Sharapova SO et al.

Human Immunology, 2013

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