Varaico: Literature-Extracted Genetic Variants

Gene:C4BPA
Variant:p.G188V
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C4BPA

NM_000715.4:p.G188V

Associated Papers

Complement factor I: Regulatory nexus, driver of immunopathology, and therapeutic.

Hallam TM et al.

Immunobiology, 2023

Early Versus Late Diagnosis of Complement Factor I Deficiency: Clinical Consequences Illustrated in Two Families with Novel Homozygous CFI Mutations.

Franco-Jarava C et al.

Journal of Clinical Immunology, 2017

Genetic, molecular and functional analyses of complement factor I deficiency.

Nilsson SC et al.

European Journal of Immunology, 2009

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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."