Varaico: Literature-Extracted Genetic Variants

Gene:C1QA
Variant:p.G43R
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C1QA

NM_015991.4:p.G43R

Associated Papers

Hereditary C1q Deficiency is Associated with Type 1 Interferon-Pathway Activation and a High Risk of Central Nervous System Inflammation.

Triaille C et al.

Journal of Clinical Immunology, 2024

Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing.

Yu H et al.

The Journal of Allergy and Clinical Immunology, 2016

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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."