Varaico: Literature-Extracted Genetic Variants

Gene:RAG1
Variant:p.F438S
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RAG1

NM_000448.3:p.F438S

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_3.xlsx › RAG2

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

The genetic and biochemical basis of Omenn syndrome.

Santagata S et al.

Immunological Reviews, 2000

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