Varaico: Literature-Extracted Genetic Variants

Gene:LRBA
Variant:p.D975fs
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LRBA

NM_001364905.1:p.D975fs

Associated Papers

Multiple Organ Involvement in a Boy with Lipopolysaccharide-Responsive Beige-like Anchor Protein Deficiency Detected by F-18 Fluorodeoxyglucose Positron Emission Tomography/Computed Tomography.

Abdulrezzak U et al.

Pediatric Allergy, Immunology, and Pulmonology, 2025

Abatacept as a Long-Term Targeted Therapy for LRBA Deficiency.

Kiykim A 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."