Varaico: Literature-Extracted Genetic Variants

Gene:NCF2
Variant:p.Q285H
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NCF2

NM_000433.4:p.Q285H

Associated Papers

Research Progress on Chronic Granulomatous Disease in Children.

Zhang Z et al.

Cureus, 2026

Genotype-phenotype correlations in chronic granulomatous disease: insights from a large national cohort.

Wolach B et al.

Blood, 2024

Duplication of Exons 8-9 in NCF2 Leading to Incomplete Clinical Penetrance in Chronic Granulomatous Disease.

Venancio Hernández MA et al.

Journal of Clinical Immunology, 2023

Novel NCF2 Mutation Causing Chronic Granulomatous Disease.

Roth IL et al.

Journal of Clinical Immunology, 2020

Late diagnosis of chronic granulomatous disease.

Barkai T et al.

Clinical and Experimental Immunology, 2020

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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."