Varaico: Literature-Extracted Genetic Variants

Gene:RAG2
Variant:p.G44*
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RAG2

NM_000536.4:p.G44*

Associated Papers

From variant of uncertain significance to likely pathogenic in two siblings with atypical RAG2 Deficiency: a case report and review of the literature.

Taghizadeh Mortezaei N et al.

Bmc Pediatrics, 2024

Clinical, immunological and molecular findings of 8 patients with typical and atypical severe combined immunodeficiency: identification of 7 novel mutations by whole exome sequencing.

Alizadeh Z et al.

Genes and Immunity, 2023

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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."