Varaico: Literature-Extracted Genetic Variants

Gene:CYBA
Variant:p.E193E
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CYBA

NM_000101.4:p.E193E

Associated Papers

Chronic granulomatous disease in the United Arab Emirates: clinical and molecular characteristics in a single center.

Al Kuwaiti AA et al.

Frontiers in Immunology, 2023

Late diagnosis of chronic granulomatous disease.

Barkai T et al.

Clinical and Experimental Immunology, 2020

Analysis of Chronic Granulomatous Disease in the Kavkazi Population in Israel Reveals Phenotypic Heterogeneity in Patients with the Same NCF1 mutation (c.579G>A).

Wolach B et al.

Journal of Clinical Immunology, 2018

Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).

Roos D et al.

Blood Cells, Molecules & Diseases, 2010

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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."