Varaico: Literature-Extracted Genetic Variants

Gene:CYBB
Variant:p.G47_S48Splc
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CYBB

NM_000397.4:p.G47_S48Splc

Associated Papers

Macrophage Activation Syndrome as a Complication of Chronic Granulomatous Disease: A Case Report.

Liquidano-Perez E et al.

Iranian Journal of Allergy, Asthma, and Immunology, 2023

Simple and Easy to Perform Preimplantation Genetic Diagnosis for β-thalassemia Major Using Combination of Conventional and Fluorescent Polymerase Chain Reaction.

Salehi R et al.

Advanced Biomedical Research, 2017

Molecular characterization of a large cohort of patients with Chronic Granulomatous Disease and identification of novel CYBB mutations: an Italian multicenter study.

Di Matteo G et al.

Molecular Immunology, 2009

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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."