Varaico: Literature-Extracted Genetic Variants

Gene:LRBA
Variant:p.E946*
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LRBA

NM_001364905.1:p.E946*

Associated Papers

Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye.

Erman B et al.

Journal of Clinical Immunology, 2024

Neonatal and early-onset diabetes in Ukraine: Atypical features and mortality.

Globa E et al.

Diabetic Medicine : a Journal of the British Diabetic Association, 2023

FOXP3 TSDR Measurement Could Assist Variant Classification and Diagnosis of IPEX Syndrome.

Wyatt RC et al.

Journal of Clinical Immunology, 2023

36600150 (PubMed )
Supplement: 10875_2022_1428_MOESM1_ESM.docx

Potential protein-phenotype correlation in three lipopolysaccharide-responsive beige-like anchor protein-deficient patients.

Tang WJ et al.

World Journal of Clinical Cases, 2021

Establishing the Molecular Diagnoses in a Cohort of 291 Patients With Predominantly Antibody Deficiency by Targeted Next-Generation Sequencing: Experience From a Monocentric Study.

Rojas-Restrepo J et al.

Frontiers in Immunology, 2021

Multifocal gastric adenocarcinoma in a patient with LRBA deficiency.

Bratanič N et al.

Orphanet Journal of Rare Diseases, 2017

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."