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
Second Report of Chronic Granulomatous Disease in Jordan: Clinical and Genetic Description of 31 Patients From 21 Different Families, Including Families From Lybia and Iraq.
Bakri FG et al.
Frontiers in Immunology, 2021
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
Genetics and immunopathology of chronic granulomatous disease.
Stasia MJ et al.
Seminars in Immunopathology, 2008
The active N-terminal region of p67phox. Structure at 1.8 A resolution and biochemical characterizations of the A128V mutant implicated in chronic granulomatous disease.
Grizot S et al.
The Journal of Biological Chemistry, 2001
Tetratricopeptide repeat (TPR) motifs of p67(phox) participate in interaction with the small GTPase Rac and activation of the phagocyte NADPH oxidase.
Koga H et al.
The Journal of Biological Chemistry, 1999
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