Varaico: Literature-Extracted Genetic Variants

Gene:FCN1
Variant:p.N289S
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FCN1

NM_002003.5:p.N289S

Associated Papers

Identification of PCSK9-like human gene knockouts using metabolomics, proteomics, and whole-genome sequencing in a consanguineous population.

Belkadi A et al.

Cell Genomics, 2023

36777185 (PubMed )
Supplement: mmc5.xlsx › Table_S4

Comprehensive genetic analysis of complement and coagulation genes in atypical hemolytic uremic syndrome.

Bu F et al.

Journal of the American Society of Nephrology : Jasn, 2014

Non-synonymous polymorphisms in the FCN1 gene determine ligand-binding ability and serum levels of M-ficolin.

Ammitzbøll CG et al.

Plos One, 2012

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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."