Varaico: Literature-Extracted Genetic Variants

Gene:CFP
Variant:p.L456V
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CFP

NM_001145252.3:p.L456V

Associated Papers

Structural studies offer a framework for understanding the role of properdin in the alternative pathway and beyond.

Pedersen DV et al.

Immunological Reviews, 2023

Heterogeneous genetic landscape of congenital neutropenia in Korean patients revealed by whole exome sequencing: genetic, phenotypic and histologic correlations.

Jeong D et al.

Scientific Reports, 2022

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

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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."