Varaico: Literature-Extracted Genetic Variants

Gene:CD46
Variant:p.D33Splc
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CD46

NM_172351.3:p.D33Splc

Associated Papers

Functional splicing analysis in an infantile case of atypical hemolytic uremic syndrome caused by digenic mutations in C3 and MCP genes.

Yamamura T et al.

Journal of Human Genetics, 2018

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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."