Varaico: Literature-Extracted Genetic Variants

Gene:CFI
Variant:p.C43*
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CFI

NM_000204.5:p.C43*

Associated Papers

Screening for Immunodeficiencies in Children With Invasive Pneumococcal Disease: Six-year Experience From a UK Children's Hospital.

Bijker EM et al.

The Pediatric Infectious Disease Journal, 2022

Classical and Non-classical Presentations of Complement Factor I Deficiency: Two Contrasting Cases Diagnosed via Genetic and Genomic Methods.

Shields AM et al.

Frontiers in Immunology, 2019

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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."