Varaico: Literature-Extracted Genetic Variants

Gene:NCF1
Variant:p.Y226*
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NCF1

NM_000265.7:p.Y226*

Associated Papers

Chronic granulomatous disease in the United Arab Emirates: clinical and molecular characteristics in a single center.

Al Kuwaiti AA et al.

Frontiers in Immunology, 2023

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

Roos D et al.

Blood Cells, Molecules & Diseases, 2010

Molecular epidemiology of chronic granulomatous disease in a series of 80 kindreds: identification of 31 novel mutations.

Kannengiesser C et al.

Human Mutation, 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."