Varaico: Literature-Extracted Genetic Variants

Gene:CFD
Variant:p.R176P
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CFD

NM_001928.4:p.R176P

Associated Papers

Two New Kindreds with Complete Factor D Deficiency.

Puel M et al.

European Journal of Immunology, 2025

Factor D.

Sekine H et al.

Immunological Reviews, 2023

A type III complement factor D deficiency: Structural insights for inhibition of the alternative pathway.

Sng CCT et al.

The Journal of Allergy and Clinical Immunology, 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."