Varaico: Literature-Extracted Genetic Variants

Gene:NCF1
Variant:p.R42W
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NCF1

NM_000265.7:p.R42W

Associated Papers

Genotype-phenotype correlations in chronic granulomatous disease: insights from a large national cohort.

Wolach B et al.

Blood, 2024

Kawasaki Disease and Inborn Errors of Immunity: Exploring the Link and Implications.

Sharma S et al.

Diagnostics (basel, Switzerland), 2023

Are transient protein-protein interactions more dispensable?

Ghadie MA et al.

Plos Computational Biology, 2022

35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _B__Y2H-SI_disMut_edgotypes

Mutation Edgotype Drives Fitness Effect in Human.

Ghadie M et al.

Frontiers in Bioinformatics, 2021

36303776 (PubMed )
Supplement: Table2.XLSX › _B__Y2H-SI_pathMt_edgotype

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

p47phox-/- Chronic Granulomatous Disease Patient with Incomplete Kawasaki Disease.

Hule GP et al.

Journal of Clinical Immunology, 2018

Clinical and Genomic Correlates of Neutrophil Reactive Oxygen Species Production in Pediatric Patients With Crohn's Disease.

Denson LA et al.

Gastroenterology, 2018

A founder effect for p47(phox)Trp193Ter chronic granulomatous disease in Kavkazi Jews.

de Boer M et al.

Blood Cells, Molecules & Diseases, 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."