Varaico: Literature-Extracted Genetic Variants

Gene:NCF2
Variant:p.W167_K168Splc
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NCF2

NM_000433.4:p.W167_K168Splc

Associated Papers

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

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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."