Varaico: Literature-Extracted Genetic Variants

Gene:CFI
Variant:p.I392_W393insFs
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CFI

NM_000204.5:p.I392_W393insFs

Associated Papers

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

Early Versus Late Diagnosis of Complement Factor I Deficiency: Clinical Consequences Illustrated in Two Families with Novel Homozygous CFI Mutations.

Franco-Jarava C et al.

Journal of Clinical Immunology, 2017

Complement factor I deficiency: a not so rare immune defect: characterization of new mutations and the first large gene deletion.

Alba-Domínguez M et al.

Orphanet Journal of Rare Diseases, 2012

Complement factor I in health and disease.

Nilsson SC et al.

Molecular Immunology, 2011

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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."