Varaico: Literature-Extracted Genetic Variants

Gene:NCF2
Variant:p.D93E
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NCF2

NM_000433.4:p.D93E

Associated Papers

A scalable approach to resolving variants of uncertain significance.

Tejura M et al.

Biorxiv : the Preprint Server for Biology, 2026

41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP

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

Akar HT et al.

Journal of Clinical Immunology, 2021

Genetic Characteristics, Infectious, and Noninfectious Manifestations of 32 Patients with Chronic Granulomatous Disease.

Aygun D et al.

International Archives of Allergy and Immunology, 2020

Chronic granulomatous disease: a 25-year patient registry based on a multistep diagnostic procedure, from the referral center for primary immunodeficiencies in Greece.

Raptaki M et al.

Journal of Clinical Immunology, 2013

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."