Varaico: Literature-Extracted Genetic Variants

Gene:CFP
Variant:p.W388*
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CFP

NM_001145252.3:p.W388*

Associated Papers

A novel mutation W388X underlying properdin deficiency in a Finnish family.

Helminen M et al.

Scandinavian Journal of Immunology, 2012

[Properdin mutations a risk factor for meningitis].

Seitsonen S et al.

Duodecim; Laaketieteellinen Aikakauskirja, 2010

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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."