Varaico: Literature-Extracted Genetic Variants

Gene:RAG2
Variant:p.R73C
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RAG2

NM_000536.4:p.R73C

Associated Papers

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Plos Genetics, 2025

40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39399040 (PubMed )
Supplement: media-1.xlsx › TableS2

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

Heterogeneity in RAG1 and RAG2 deficiency: 35 cases from a single-centre.

Karaatmaca B et al.

Clinical and Experimental Immunology, 2024

Clinical, immunologic, and genetic characteristics of RAG mutations in 15 Chinese patients with SCID and Omenn syndrome.

Bai X et al.

Immunologic Research, 2016

Disease variants in genomes of 44 centenarians.

Freudenberg-Hua Y et al.

Molecular Genetics & Genomic Medicine, 2014

25333069 (PubMed )
Supplement: mgg30002-0438-SD2.pdf
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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."