Varaico: Literature-Extracted Genetic Variants

Gene:CFP
Variant:p.E244K
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CFP

NM_001145252.3:p.E244K

Associated Papers

Clinical and Genetic Spectrum of a Large Cohort With Total and Sub-total Complement Deficiencies.

El Sissy C et al.

Frontiers in Immunology, 2019

Structural Basis for Properdin Oligomerization and Convertase Stimulation in the Human Complement System.

Pedersen DV et al.

Frontiers in Immunology, 2019

Compound heterozygous mutations in IL10RA combined with a complement factor properdin mutation in infantile-onset inflammatory bowel disease.

Jung ES et al.

European Journal of Gastroenterology & Hepatology, 2018

Functional and structural insight into properdin control of complement alternative pathway amplification.

Pedersen DV et al.

The Embo Journal, 2017

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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."