Varaico: Literature-Extracted Genetic Variants

Gene:PLEK
Variant:p.Q343*
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PLEK

NM_002664.3:p.Q343*

Associated Papers

Clinical and genetic features of the patients with X-Linked agammaglobulinemia from Turkey: Single-centre experience.

Esenboga S et al.

Scandinavian Journal of Immunology, 2018

Bruton tyrosine kinase gene mutations in Turkish patients with presumed X-linked agammaglobulinemia.

Wang Y et al.

Human Mutation, 2001

[The oldest case with X-linked agammaglobulinemia in Japan lacking Bruton-type tyrosine kinase protein detected by flow cytometry].

Ishida F et al.

[rinsho Ketsueki] the Japanese Journal of Clinical Hematology, 1998

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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."