Varaico: Literature-Extracted Genetic Variants

Gene:NCF2
Variant:p.E243fs
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NCF2

NM_000433.4:p.E243fs

Associated Papers

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

Focus on FOCIS: the continuing diagnostic challenge of autosomal recessive chronic granulomatous disease.

Yu G et al.

Clinical Immunology (orlando, Fla.), 2008

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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."