Varaico: Literature-Extracted Genetic Variants

Gene:BTK
Variant:p.L569L
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BTK

NM_000061.3:p.L569L

Associated Papers

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

Chen XF et al.

Medicine, 2016

Atypical case of X-linked agammaglobulinemia diagnosed at 45 years of age.

Fujioka T et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2011

X-linked agammaglobulinemia diagnosed late in life: case report and review of the literature.

Sigmon JR et al.

Clinical and Molecular Allergy : Cma, 2008

Clinical and mutational characteristics of X-linked agammaglobulinemia and its carrier identified by flow cytometric assessment combined with genetic analysis.

Kanegane H et al.

The Journal of Allergy and Clinical Immunology, 2001

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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."