Varaico: Literature-Extracted Genetic Variants

Gene:LRBA
Variant:p.S1605*
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LRBA

NM_001364905.1:p.S1605*

Associated Papers

Potential protein-phenotype correlation in three lipopolysaccharide-responsive beige-like anchor protein-deficient patients.

Tang WJ et al.

World Journal of Clinical Cases, 2021

G2-lymphocyte chromosomal radiosensitivity in patients with LPS responsive beige-like anchor protein (LRBA) deficiency.

Mozdarani H et al.

International Journal of Radiation Biology, 2019

Polyautoimmunity in Patients with LPS-Responsive Beige-Like Anchor (LRBA) Deficiency.

Azizi G et al.

Immunological Investigations, 2018

Multiple Presentations of LRBA Deficiency: a Single-Center Experience.

Kostel Bal S et al.

Journal of Clinical Immunology, 2017

Clinical, immunologic, molecular analyses and outcomes of iranian patients with LRBA deficiency: A longitudinal study.

Azizi G et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2017

Spectrum of Phenotypes Associated with Mutations in LRBA.

Alkhairy OK et al.

Journal of Clinical Immunology, 2016

Two Faces of LRBA Deficiency in Siblings: Hypogammaglobulinemia and Normal Immunoglobulin Levels.

Azizi G et al.

Journal of Investigational Allergology & Clinical Immunology, 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."