Varaico: Literature-Extracted Genetic Variants

Gene:LRBA
Variant:p.R182*
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LRBA

NM_001364905.1:p.R182*

Associated Papers

Loss-of-function of lipopolysaccharide-responsive beige-like anchor protein causes inflammatory bowel disease-a case report and literature review.

Wang Z et al.

Translational Pediatrics, 2025

Clinical Spectrum of Monogenic Infantile-Onset Inflammatory Bowel Disease.

Ganesh R et al.

Indian Journal of Pediatrics, 2022

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

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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."