Varaico: Literature-Extracted Genetic Variants

Gene:WDR1
Variant:p.L293F
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WDR1

NM_017491.5:p.L293F

Associated Papers

Dysregulation of inflammasomes in autoinflammatory diseases.

Hou C et al.

Joint Bone Spine, 2025

Current landscape of monogenic autoinflammatory actinopathies: A literature review.

Mertz P et al.

Autoimmunity Reviews, 2025

[Monogenic auto-inflammatory diseases associated with actinopathies: A review of the literature].

Mertz P et al.

La Revue De Medecine Interne, 2023

Pathophysiology, clinical manifestations and current management of IL-1 mediated monogenic systemic autoinflammatory diseases, a literature review.

Li Y et al.

Pediatric Rheumatology Online Journal, 2022

Primary Immunodeficiency Disease Mimicking Pediatric Bechet's Disease.

Shiraki M et al.

Children (basel, Switzerland), 2021

When Actin is Not Actin' Like It Should: A New Category of Distinct Primary Immunodeficiency Disorders.

Sprenkeler EGG et al.

Journal of Innate Immunity, 2021

Monogenic mimics of Behçet's disease in the young.

Papadopoulou C et al.

Rheumatology (oxford, England), 2019

Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene WDR1.

Standing AS et al.

The Journal of Experimental Medicine, 2017

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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."