Varaico: Literature-Extracted Genetic Variants

Gene:BTK
Variant:p.R562L
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BTK

NM_000061.3:p.R562L

Associated Papers

Research-based flow cytometry assays for pathogenic assessment in the human B-cell biology of gene variants revealed in the diagnosis of inborn errors of immunity: a Bruton's tyrosine kinase case-study.

Del Pino-Molina L et al.

Frontiers in Immunology, 2023

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

Chen XF et al.

Medicine, 2016

Mutation of the BTK gene and clinical feature of X-linked agammaglobulinemia in mainland China.

Wang Y et al.

Journal of Clinical Immunology, 2009

[Gene diagnosis of X-linked agammaglobulinemia].

Wang XC et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2005

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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."