Varaico: Literature-Extracted Genetic Variants

Gene:LRBA
Variant:p.V1717M
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LRBA

NM_001364905.1:p.V1717M

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

Association of rare variants in genes of immune regulation with pediatric autoimmune CNS diseases.

Jafarpour S et al.

Journal of Neurology, 2022

Application of blood and immunodeficiency gene detection in the diagnosis of hemophagocytic lymphohistiocytosis patients.

Mo W et al.

Experimental Hematology, 2019

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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."