Varaico: Literature-Extracted Genetic Variants

Gene:CFH
Variant:p.L1181S
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CFH

NM_000186.4:p.L1181S

Associated Papers

Age-related penetrance of hereditary atypical hemolytic uremic syndrome.

Sullivan M et al.

Annals of Human Genetics, 2011

The human complement factor H: functional roles, genetic variations and disease associations.

Rodríguez de Córdoba S et al.

Molecular Immunology, 2004

Haemolytic uraemic syndrome and mutations of the factor H gene: a registry-based study of German speaking countries.

Neumann HP et al.

Journal of Medical Genetics, 2003

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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."