Varaico: Literature-Extracted Genetic Variants

Gene:CFP
Variant:p.C337R
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CFP

NM_001145252.3:p.C337R

Associated Papers

Properdin deficiency associated with systemic meningococcal disease due to a novel p.Cys337Arg pathogenic variant.

González-Sánchez L et al.

Genes & Diseases, 2024

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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."