Varaico: Literature-Extracted Genetic Variants

Gene:CD46
Variant:p.Y54C
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CD46

NM_172351.3:p.Y54C

Associated Papers

Complement regulator CD46: genetic variants and disease associations.

Liszewski MK et al.

Human Genomics, 2015

Successful long-term treatment of TMA with eculizumab in a transplanted patient with atypical hemolytic uremic syndrome due to MCP mutation.

Reuter S et al.

Transplantation, 2013

Age-related penetrance of hereditary atypical hemolytic uremic syndrome.

Sullivan M et al.

Annals of Human Genetics, 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."