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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CD46

Variant:p.R96K

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CD46

NM_172351.3:p.R96K

hg38:chr1:207757203 G>A

Associated Papers

Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome.

Maga TK et al.

Human Mutation, 2010

20513133 (PubMed )

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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."