Varaico: Literature-Extracted Genetic Variants

Gene:NCF2
Variant:p.A202V
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NCF2

NM_000433.4:p.A202V

Associated Papers

Structure of human phagocyte NADPH oxidase in the activated state.

Liu X et al.

Nature, 2024

Clinical and Immunological Characteristics of 63 Patients with Chronic Granulomatous Disease: Hacettepe Experience.

Akar HT et al.

Journal of Clinical Immunology, 2021

The Evaluation of DHR Histogram Pattern in Chronic Granulomatous Disease and MPO Deficiency.

Köker MY et al.

Chest, 2021

Genetic disorders coupled to ROS deficiency.

O'Neill S et al.

Redox Biology, 2015

Two CGD Families with a Hypomorphic Mutation in the Activation Domain of p67phox.

Roos D et al.

Journal of Clinical & Cellular Immunology, 2014

Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).

Roos D et al.

Blood Cells, Molecules & Diseases, 2010

Four different NCF2 mutations in six families from Turkey and an overview of NCF2 gene mutations.

Köker MY et al.

European Journal of Clinical Investigation, 2009

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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."