Varaico: Literature-Extracted Genetic Variants

Gene:PLEK
Variant:p.Q328*
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PLEK

NM_002664.3:p.Q328*

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

BTK: 22 novel and 25 recurrent mutations in European patients with X-linked agammaglobulinemia.

Fiorini M et al.

Human Mutation, 2004

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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."