Varaico: Literature-Extracted Genetic Variants

Gene:CYBA
Variant:p.L123_A124Splc
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CYBA

NM_000101.4:p.L123_A124Splc

Associated Papers

Clinical and Immunological Characteristics of 63 Patients with Chronic Granulomatous Disease: Hacettepe Experience.

Akar HT et al.

Journal of Clinical Immunology, 2021

Chronic granulamatous disease: Two decades of experience from a paediatric immunology unit in a country with high rate of consangineous marriages.

Kutukculer N et al.

Scandinavian Journal of Immunology, 2019

Necrotizing Liver Granuloma/Abscess and Constrictive Aspergillosis Pericarditis with Central Nervous System Involvement: Different Remarkable Phenotypes in Different Chronic Granulomatous Disease Genotypes.

Eren Akarcan S et al.

Case Reports in Immunology, 2017

Molecular basis of autosomal recessive chronic granulomatous disease in iran.

Teimourian S et al.

Journal of Clinical Immunology, 2010

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

Roos D et al.

Blood Cells, Molecules & Diseases, 2010

Characterization of six novel mutations in CYBA: the gene causing autosomal recessive chronic granulomatous disease.

Teimourian S et al.

British Journal of Haematology, 2008

X-linked chronic granulomatous disease: first report of mutations in patients of Argentina.

Barese C et al.

Journal of Pediatric Hematology/oncology, 2004

X-Linked Chronic Granulomatous Disease: First Report of Mutations in Patients of Argentina.

Barese C et al.

Journal of Pediatric Hematology/oncology, 2004

Common Infections and Target Organs Associated with Chronic Granulomatous Disease in Iran.

Mortaz E et al.

International Archives of Allergy and Immunology, 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."