Varaico: Literature-Extracted Genetic Variants

Gene:CFH
Variant:p.L1207H
Back to variants list

CFH

NM_000186.4:p.L1207H

Associated Papers

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

Bu F et al.

Clinical & Developmental Immunology, 2012

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

Rodríguez de Córdoba S et al.

Molecular Immunology, 2004

Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: the C-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease.

Caprioli J et al.

Human Molecular Genetics, 2003

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."