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
Screening Newborns for Low T Cell Receptor Excision Circles (TRECs) Fails to Detect Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome.
Staudacher O et al.
The Journal of Allergy and Clinical Immunology. in Practice, 2023
Clinical and Immunological Characteristics of 63 Patients with Chronic Granulomatous Disease: Hacettepe Experience.
Akar HT et al.
Journal of Clinical Immunology, 2021
Genetic Characteristics, Infectious, and Noninfectious Manifestations of 32 Patients with Chronic Granulomatous Disease.
Aygun D et al.
International Archives of Allergy and Immunology, 2020
Chronic granulomatous disease: a 25-year patient registry based on a multistep diagnostic procedure, from the referral center for primary immunodeficiencies in Greece.
Raptaki M et al.
Journal of Clinical Immunology, 2013
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
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