Varaico: Literature-Extracted Genetic Variants

Gene:CAPG
Variant:p.S8Splc
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CAPG

NM_001747.4:p.S8Splc

Associated Papers

Atypical hemolytic uremic syndrome.

Kavanagh D et al.

Seminars in Nephrology, 2013

Successful long-term outcome after renal transplantation in a patient with atypical haemolytic uremic syndrome with combined membrane cofactor protein CD46 and complement factor I mutations.

Pabst WL et al.

Pediatric Nephrology (berlin, Germany), 2013

Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome.

Caprioli J et al.

Blood, 2006

Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical hemolytic uremic syndrome.

Fremeaux-Bacchi V et al.

Journal of the American Society of Nephrology : Jasn, 2006

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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."