Varaico: Literature-Extracted Genetic Variants

Gene:CYBA
Variant:p.Q130*
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CYBA

NM_000101.4:p.Q130*

Associated Papers

Somatic mutations associate with clonal expansion of CD8+ T cells.

Lundgren S et al.

Science Advances, 2024

38848368 (PubMed )
Supplement: sciadv.adj0787_tables_s1_to_s11.zip › adj0787_Tables_S1_to_S11.xlsx › S2

Proteome Analysis of Human Neutrophil Granulocytes From Patients With Monogenic Disease Using Data-independent Acquisition.

Grabowski P et al.

Molecular & Cellular Proteomics : Mcp, 2019

30630937 (PubMed )
Supplement: 141289_1_supp_251887_pjqfps.xlsx › Sheet1

Characterization of 4 New Mutations in the CYBB Gene in 10 Iranian Families With X-linked Chronic Granulomatous Disease.

Teimourian S et al.

Journal of Pediatric Hematology/oncology, 2018

Three novel mutations in CYBA among 22 Iranians with Chronic granulomatous disease.

Badalzadeh M et al.

International Journal of Immunogenetics, 2017

Gene mutations responsible for primary immunodeficiency disorders: A report from the first primary immunodeficiency biobank in Iran.

Sheikhbahaei S et al.

Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2016

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

Kannengiesser C et al.

Human Mutation, 2008

Characterization of 11 novel mutations in the X-linked chronic granulomatous disease (CYBB gene).

Gérard B et al.

Human Mutation, 2001

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."