Varaico: Literature-Extracted Genetic Variants

Gene:NCF1
Variant:p.V25insFs
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NCF1

NM_000265.7:p.V25insFs

Associated Papers

Analysis of Chronic Granulomatous Disease in the Kavkazi Population in Israel Reveals Phenotypic Heterogeneity in Patients with the Same NCF1 mutation (c.579G>A).

Wolach B et al.

Journal of Clinical Immunology, 2018

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."