Varaico: Literature-Extracted Genetic Variants

Gene:CYBA
Variant:p.V99_A101delFs
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CYBA

NM_000101.4:p.V99_A101delFs

Associated Papers

Analysis of Clinical, Immunological and Molecular Features of Leukocyte Adhesion Deficiency Type I in Egyptian Children.

Saad MM et al.

Journal of Clinical Immunology, 2024

Chronic Granulomatous Disease: a Cohort of 173 Patients-10-Years Single Center Experience from Egypt.

Abd Elaziz D et al.

Journal of Clinical Immunology, 2023

Genetic Testing in Egyptian Patients with Inborn Errors of Immunity: a Single-Center Experience.

El Hawary RE et al.

Journal of Clinical Immunology, 2022

"Clinical Aspects of Chronic Granulomatous Disease in Upper Egypt".

El-Mokhtar MA et al.

Immunological Investigations, 2021

Comprehensive Genetic Results for Primary Immunodeficiency Disorders in a Highly Consanguineous Population.

Al-Herz W et al.

Frontiers in Immunology, 2018

Optimized Generation of Functional Neutrophils and Macrophages from Patient-Specific Induced Pluripotent Stem Cells: Ex Vivo Models of X(0)-Linked, AR22(0)- and AR47(0)- Chronic Granulomatous Diseases.

Brault J et al.

Bioresearch Open Access, 2014

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

Roos D et al.

Blood Cells, Molecules & Diseases, 2010

Molecular epidemiology of chronic granulomatous disease in a series of 80 kindreds: identification of 31 novel mutations.

Kannengiesser C et al.

Human Mutation, 2008

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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."