Varaico: Literature-Extracted Genetic Variants

Gene:BTK
Variant:p.G47_R48Splc
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BTK

NM_000061.3:p.G47_R48Splc

Associated Papers

Role of Skewed X-Chromosome Inactivation in Common Variable Immunodeficiency.

Garcia-Prat M et al.

Journal of Clinical Immunology, 2024

[Late diagnosis of WHIM sydrome].

Paolini MV et al.

Medicina, 2018

Clinical and molecular analysis of 49 patients with X-linked agammaglobulinemia from a single center in Argentina.

Basile N et al.

Journal of Clinical Immunology, 2009

Bruton tyrosine kinase gene mutations in Argentina.

Danielian S et al.

Human Mutation, 2003

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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."