Varaico: Literature-Extracted Genetic Variants

Gene:NCF2
Variant:p.R184*
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NCF2

NM_000433.4:p.R184*

Associated Papers

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

Dong L et al.

Italian Journal of Pediatrics, 2024

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

Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Jia X et al.

Molecular Psychiatry, 2021

33483695 (PubMed )
Supplement: 41380_2020_1006_MOESM2_ESM.xlsx › S2

Approach to Molecular Diagnosis of Chronic Granulomatous Disease (CGD): an Experience from a Large Cohort of 90 Indian Patients.

Kulkarni M et al.

Journal of Clinical Immunology, 2018

Clinical Features and Genetic Analysis of 48 Patients with Chronic Granulomatous Disease in a Single Center Study from Shanghai, China (2005-2015): New Studies and a Literature Review.

Wu J et al.

Journal of Immunology Research, 2017

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

Roos D et al.

Blood Cells, Molecules & Diseases, 2010

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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."