Varaico: Literature-Extracted Genetic Variants

Gene:C3
Variant:p.R148Q
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C3

NM_000064.4:p.R148Q

Associated Papers

Defining Nephritic Factors as Diverse Drivers of Systemic Complement Dysregulation in C3 Glomerulopathy.

Hauer JJ et al.

Kidney International Reports, 2024

Whole Genome Sequencing Identifies Novel Common and Low-Frequency Variants Associated With Age-Related Macular Degeneration.

Acar IE et al.

Investigative Ophthalmology & Visual Science, 2023

37975850 (PubMed )
Supplement: iovs-64-14-24_s003.xlsx › Supplementary_Table_15

Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis.

Kernan KF et al.

Journal of Clinical Immunology, 2022

Diseases of complement dysregulation-an overview.

Wong EKS et al.

Seminars in Immunopathology, 2018

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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."