Varaico: Literature-Extracted Genetic Variants

Gene:NCF2
Variant:p.E122_V123Splc
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NCF2

NM_000433.4:p.E122_V123Splc

Associated Papers

Screening Newborns for Low T Cell Receptor Excision Circles (TRECs) Fails to Detect Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome.

Staudacher O et al.

The Journal of Allergy and Clinical Immunology. in Practice, 2023

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

Akar HT et al.

Journal of Clinical Immunology, 2021

A novel variant in the neutrophil cytosolic factor 2 (NCF2) gene results in severe disseminated BCG infectious disease: A clinical report and literature review.

AlKhater SA et al.

Molecular Genetics & Genomic Medicine, 2020

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

Roos D et al.

Blood Cells, Molecules & Diseases, 2010

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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."