Varaico: Literature-Extracted Genetic Variants

Gene:BTK
Variant:p.F583L
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BTK

NM_000061.3:p.F583L

Associated Papers

Immunodeficiency-Related Vaccine-Derived Poliovirus (iVDPV) Excretion in an Infant with Severe Combined Immune Deficiency with Spillover to a Parent.

Mohanty MC et al.

Vaccines, 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

Characterization of all possible single-nucleotide change caused amino acid substitutions in the kinase domain of Bruton tyrosine kinase.

Väliaho J et al.

Human Mutation, 2015

Clinical characteristics and molecular analysis of 21 Chinese children with congenital agammaglobulinemia.

Zhang ZY et al.

Scandinavian Journal of Immunology, 2010

[Analysis of mutation in heavy chain-micro (microHC) gene in a Chinese patient with congenital agammaglobulinemia].

Zhang ZY et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2010

[Genetic diagnosis of patients with primary agammaglobulinemia treated at third level peruvian centers].

Matos-Benavides E et al.

Revista Peruana De Medicina Experimental Y Salud Publica, 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."