Varaico: Literature-Extracted Genetic Variants

Gene:BTK
Variant:p.Y39H
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BTK

NM_000061.3:p.Y39H

Associated Papers

B-cells absence in patients diagnosed as inborn errors of immunity: a registry-based study.

Khoshnevisan R et al.

Immunogenetics, 2024

Ciliary and immune dysfunctions and their genetic background in patients with non-cystic fibrosis bronchiectasis in Central Iran.

Hassanzadeh S et al.

Irish Journal of Medical Science, 2023

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

Conservation and covariance in PH domain sequences: physicochemical profile and information theoretical analysis of XLA-causing mutations in the Btk PH domain.

Shen B et al.

Protein Engineering, Design & Selection : Peds, 2004

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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."