Varaico: Literature-Extracted Genetic Variants

Gene:CFI
Variant:p.V537insFs
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CFI

NM_000204.5:p.V537insFs

Associated Papers

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

Atypical hemolytic uremic syndrome.

Kavanagh D et al.

Seminars in Nephrology, 2013

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

Familial atypical hemolytic uremic syndrome: a review of its genetic and clinical aspects.

Bu F et al.

Clinical & Developmental Immunology, 2012

Complement factor I in health and disease.

Nilsson SC et al.

Molecular Immunology, 2011

Mutations in complement factor I as found in atypical hemolytic uremic syndrome lead to either altered secretion or altered function of factor I.

Nilsson SC et al.

European Journal of Immunology, 2010

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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."