Varaico: Literature-Extracted Genetic Variants

Gene:BTK
Variant:p.R28L
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BTK

NM_000061.3:p.R28L

Associated Papers

Genomic and clinical characterization of adult CVID patients: results from a single-centre turkish cohort.

Yilmaz Tekinhatun H et al.

Immunologic Research, 2025

Dysregulation of Toll-Like Receptor Signaling-Associated Gene Expression in X-Linked Agammaglobulinemia: Implications for Correlations Genotype-Phenotype and Disease Expression.

Teocchi M et al.

Journal of Innate Immunity, 2024

Clinical characteristics and genetic profiles of 174 patients with X-linked agammaglobulinemia: Report from Shanghai, China (2000-2015).

Chen XF et al.

Medicine, 2016

BTK mutations selectively regulate BTK expression and upregulate monocyte XBP1 mRNA in XLA patients.

Teocchi MA et al.

Immunity, Inflammation and Disease, 2015

Identification of Bruton tyrosine kinase mutations in 12 Chinese patients with X-linked agammaglobulinaemia by long PCR-direct sequencing.

Chan KW et al.

International Journal of Immunogenetics, 2006

Identification of the bruton tyrosine kinase (BTK) gene mutations in 20 Australian families with X-linked agammaglobulinemia (XLA).

Velickovic M et al.

Human Mutation, 2004

Identification of mutations of Bruton's tyrosine kinase gene (BTK) in Brazilian patients with X-linked agammaglobulinemia.

Tani SM et al.

Human Mutation, 2002

Clinical and genetic profiles of patients with X-linked agammaglobulinemia from southeast Turkey: Novel mutations in BTK gene.

Doğruel D et al.

Allergologia Et Immunopathologia, 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."