Varaico: Literature-Extracted Genetic Variants

Gene:LRBA
Variant:p.T1587fs
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LRBA

NM_001364905.1:p.T1587fs

Associated Papers

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.

Arts P et al.

Genome Medicine, 2019

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

Kostel Bal S et al.

Journal of Clinical Immunology, 2017

CHAI and LATAIE: new genetic diseases of CTLA-4 checkpoint insufficiency.

Lo B et al.

Blood, 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."