Varaico: Literature-Extracted Genetic Variants

Gene:NCF2
Variant:p.Q192*
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NCF2

NM_000433.4:p.Q192*

Associated Papers

Chronic Granulomatous Disease: a Cohort of 173 Patients-10-Years Single Center Experience from Egypt.

Abd Elaziz D et al.

Journal of Clinical Immunology, 2023

Genetic Testing in Egyptian Patients with Inborn Errors of Immunity: a Single-Center Experience.

El Hawary RE et al.

Journal of Clinical Immunology, 2022

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

El-Mokhtar MA et al.

Immunological Investigations, 2021

Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.

Xi Y et al.

Molecular Genetics & Genomic Medicine, 2020

32573981 (PubMed )
Supplement: MGG3-8-e1340-s004.pdf

Genetic Counseling in Primary Immunodeficiency Disorders: An Emerging Experience in Egypt.

El Hawary RE et al.

Molecular Diagnosis & Therapy, 2017

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

Roos D et al.

Blood Cells, Molecules & Diseases, 2010

Ocular manifestations in chronic granulomatous disease in Saudi Arabia.

Al-Muhsen S et al.

Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 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."