Varaico: Literature-Extracted Genetic Variants

Gene:RAG1
Variant:p.R764C
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RAG1

NM_000448.3:p.R764C

Associated Papers

Human Inborn Errors of Immunity in Pyoderma Gangrenosum: A Systematic Review.

Oprea Y et al.

American Journal of Clinical Dermatology, 2024

Case report: Identification of a Chinese patient with RAG1 mutations initially presenting as autoimmune hemolytic anemia.

Chen X et al.

Frontiers in Immunology, 2024

Combined immunodeficiencies: twenty years experience from a single center in Turkey.

Akar HH et al.

Central-european Journal of Immunology, 2016

Atypical severe combined immunodeficiency caused by a novel homozygous mutation in Rag1 gene in a girl who presented with pyoderma gangrenosum: a case report and literature review.

Patiroglu T et al.

Journal of Clinical Immunology, 2014

Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency.

Farmer JR et al.

The Journal of Allergy and Clinical Immunology. in Practice, 0

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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."