Varaico: Literature-Extracted Genetic Variants

Gene:CYBB
Variant:p.A84_C85Splc
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CYBB

NM_000397.4:p.A84_C85Splc

Associated Papers

Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.

Quinn J et al.

Frontiers in Immunology, 2022

35757720 (PubMed )
Supplement: DataSheet_1.pdf

Primary immunodeficiencies in Bulgaria - achievements and challenges of the PID National Expert Center.

Naumova E et al.

Frontiers in Immunology, 2022

36211402 (PubMed )
Supplement: DataSheet_1.pdf

Clinical and Molecular Features of Chronic Granulomatous Disease in Mainland China and a XL-CGD Female Infant Patient After Prenatal Diagnosis.

Wang S et al.

Journal of Clinical Immunology, 2019

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

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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."