Varaico: Literature-Extracted Genetic Variants

Gene:LRBA
Variant:p.Q1010*
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LRBA

NM_001364905.1:p.Q1010*

Associated Papers

Interstitial Lung Disease in an Adolescent Girl with Lipopolysaccharide-Responsive Beige-Like Anchor Deficiency.

Tuğcu GD et al.

Pediatric Allergy, Immunology, and Pulmonology, 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

Case Report: Exome Sequencing Reveals LRBA Deficiency in a Patient With End-Stage Renal Disease.

Taylan C et al.

Frontiers in Pediatrics, 2020

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

Kostel Bal S et al.

Journal of Clinical Immunology, 2017

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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."