Varaico: Literature-Extracted Genetic Variants

Gene:C4BPA
Variant:p.K318R
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C4BPA

NM_000715.4:p.K318R

Associated Papers

The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene.

Zhu Q et al.

Blood, 1995

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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."