Varaico: Literature-Extracted Genetic Variants

Gene:NOX1
Variant:p.D360N
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NOX1

NM_007052.5:p.D360N

Associated Papers

Monogenic forms of inflammatory bowel disease: Genetic mechanisms, models, and clinical implications.

Ghorbanpour A et al.

Molecular Medicine (cambridge, Mass.), 2026

Three Unrelated Children With Childhood Apraxia of Speech: Exome Sequencing and Functional Gene Analysis Imply a Role of Laminin-511 in Early Neurodevelopment.

Raaz C et al.

Case Reports in Genetics, 2026

Missense variants in NOX1 and p22phox in a case of very-early-onset inflammatory bowel disease are functionally linked to NOD2.

Lipinski S et al.

Cold Spring Harbor Molecular Case Studies, 2019

NOX1 loss-of-function genetic variants in patients with inflammatory bowel disease.

Schwerd T et al.

Mucosal Immunology, 2018

A Case-Control Study of the Genetic Variability in Reactive Oxygen Species-Metabolizing Enzymes in Melanoma Risk.

Yuan TA et al.

International Journal of Molecular Sciences, 2018

Genetic disorders coupled to ROS deficiency.

O'Neill S et al.

Redox Biology, 2015

Defects in NADPH Oxidase Genes NOX1 and DUOX2 in Very Early Onset Inflammatory Bowel Disease.

Hayes P et al.

Cellular and Molecular Gastroenterology and Hepatology, 2015

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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."