Varaico: Literature-Extracted Genetic Variants

Gene:RAG1
Variant:p.P85fs
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RAG1

NM_000448.3:p.P85fs

Associated Papers

A hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency.

Abolhassani H et al.

The Journal of Allergy and Clinical Immunology, 2014

Novel mutatıons and diverse clinical phenotypes in recombinase-activating gene 1 deficiency.

Kutukculer N et al.

Italian Journal of Pediatrics, 2012

RAG-dependent primary immunodeficiencies.

Sobacchi C et al.

Human Mutation, 2006

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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."