Varaico: Literature-Extracted Genetic Variants

Gene:CFD
Variant:p.S42*
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CFD

NM_001928.4:p.S42*

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

Complement factor D haplodeficiency is associated with a reduced complement activation speed and diminished bacterial killing.

Langereis JD et al.

Clinical & Translational Immunology, 2021

Quantitative multiplex profiling of the complement system to diagnose complement-mediated diseases.

Willems E et al.

Clinical & Translational Immunology, 2020

33318796 (PubMed )
Supplement: CTI2-9-e1225-s001.pdf

Host genetic susceptibility to pneumococcal and meningococcal disease: a systematic review and meta-analysis.

Brouwer MC et al.

The Lancet. Infectious Diseases, 2009

A family with complement factor D deficiency.

Biesma DH et al.

The Journal of Clinical Investigation, 2001

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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."