Varaico: Literature-Extracted Genetic Variants

Gene:NCF2
Variant:p.K86Splc
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NCF2

NM_000433.4:p.K86Splc

Associated Papers

"Clinical Aspects of Chronic Granulomatous Disease in Upper Egypt".

El-Mokhtar MA et al.

Immunological Investigations, 2021

A Novel Mutation in the NCF2 Gene in a CGD Patient With Chronic Recurrent Pneumopathy.

de Albuquerque JAT et al.

Frontiers in Pediatrics, 2019

Lessons from Genetic Studies of Primary Immunodeficiencies in a Highly Consanguineous Population.

Barbouche MR et al.

Frontiers in Immunology, 2017

A Founder Effect of c.257 + 2T > C Mutation in NCF2 Gene Underlies Severe Chronic Granulomatous Disease in Eleven Patients.

Ben-Farhat K et al.

Journal of Clinical Immunology, 2016

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."