Varaico: Literature-Extracted Genetic Variants

Gene:NCF2
Variant:p.G44R
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NCF2

NM_000433.4:p.G44R

Associated Papers

A scalable approach to resolving variants of uncertain significance.

Tejura M et al.

Biorxiv : the Preprint Server for Biology, 2026

41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP

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

Genetics and immunopathology of chronic granulomatous disease.

Stasia MJ et al.

Seminars in Immunopathology, 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."