Varaico: Literature-Extracted Genetic Variants

Gene:WIPF1
Variant:p.S434*
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WIPF1

NM_001375834.1:p.S434*

Associated Papers

Primary immunodeficiencies caused by mutations in actin regulatory proteins.

Janssen E et al.

Immunological Reviews, 2019

F-actin remodeling defects as revealed in primary immunodeficiency disorders.

Janssen WJ et al.

Clinical Immunology (orlando, Fla.), 2016

A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP.

Lanzi G et al.

The Journal of Experimental Medicine, 2012

[Immunodeficiency, Wiskott-Aldrich type].

Kim KC

Ryoikibetsu Shokogun Shirizu, 2001

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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."