Varaico: Literature-Extracted Genetic Variants

Gene:NCF2
Variant:p.M1T
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NCF2

NM_000433.4:p.M1T

Associated Papers

Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing.

Yu H et al.

The Journal of Allergy and Clinical Immunology, 2016

Alu-repeat-induced deletions within the NCF2 gene causing p67-phox-deficient chronic granulomatous disease (CGD).

Gentsch M et al.

Human Mutation, 2010

Genetic and mutational heterogeneity of autosomal recessive chronic granulomatous disease in Tunisia.

El Kares R et al.

Journal of Human Genetics, 2006

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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."