Varaico: Literature-Extracted Genetic Variants

Gene:CFI
Variant:p.K262delFs
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CFI

NM_000204.5:p.K262delFs

Associated Papers

Primary pneumococcal peritonitis can be the first presentation of a familial complement factor I deficiency1.

Ugrinovic S et al.

Clinical and Experimental Immunology, 2020

An update for atypical haemolytic uraemic syndrome: diagnosis and treatment. A consensus document.

Campistol JM et al.

Nefrologia : Publicacion Oficial De La Sociedad Espanola Nefrologia, 2015

Atypical hemolytic uremic syndrome.

Kavanagh D et al.

Seminars in Nephrology, 2013

Complement factor I in health and disease.

Nilsson SC et al.

Molecular Immunology, 2011

New insights into postrenal transplant hemolytic uremic syndrome.

Zuber J et al.

Nature Reviews. Nephrology, 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."