Varaico: Literature-Extracted Genetic Variants

Gene:NCF2
Variant:p.K58del1
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NCF2

NM_000433.4:p.K58del1

Associated Papers

Two distinct clinical progressions of P67phox-deficient CGD, both commencing with cervical lymphadenitis.

Dong L et al.

Italian Journal of Pediatrics, 2024

Clinical and genetic characteristics of Chinese pediatric patients with chronic granulomatous disease.

Gao LW et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2019

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

Roos D et al.

Blood Cells, Molecules & Diseases, 2010

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."