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
Two distinct clinical progressions of P67phox-deficient CGD, both commencing with cervical lymphadenitis.
Dong L et al.
Italian Journal of Pediatrics, 2024
Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye.
Erman B et al.
Journal of Clinical Immunology, 2024
Clinical and Molecular Features of Chronic Granulomatous Disease in Mainland China and a XL-CGD Female Infant Patient After Prenatal Diagnosis.
Wang S et al.
Journal of Clinical Immunology, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
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
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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