Varaico: Literature-Extracted Genetic Variants

Gene:PLEK
Variant:p.R307G
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PLEK

NM_002664.3:p.R307G

Associated Papers

Stability and peptide binding specificity of Btk SH2 domain: molecular basis for X-linked agammaglobulinemia.

Tzeng SR et al.

Protein Science : a Publication of the Protein Society, 2000

Six X-linked agammaglobulinemia-causing missense mutations in the Src homology 2 domain of Bruton's tyrosine kinase: phosphotyrosine-binding and circular dichroism analysis.

Mattsson PT et al.

Journal of Immunology (baltimore, Md. : 1950), 2000

Mutation pattern in the Bruton's tyrosine kinase gene in 26 unrelated patients with X-linked agammaglobulinemia.

Vorechovský I et al.

Human Mutation, 1997

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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."