Varaico: Literature-Extracted Genetic Variants

Gene:LRBA
Variant:p.N1217fs
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LRBA

NM_001364905.1:p.N1217fs

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

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

Azizi G et al.

Immunological Investigations, 2018

The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency.

Gámez-Díaz L et al.

The Journal of Allergy and 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."