Varaico: Literature-Extracted Genetic Variants

Gene:CFH
Variant:p.C66Y
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CFH

NM_000186.4:p.C66Y

Associated Papers

The human factor H protein family - an update.

Sándor N et al.

Frontiers in Immunology, 2024

38410512 (PubMed )
Supplement: DataSheet_1.pdf

Complete functional characterization of disease-associated genetic variants in the complement factor H gene.

Merinero HM et al.

Kidney International, 2018

Elevated factor H-related protein 1 and factor H pathogenic variants decrease complement regulation in IgA nephropathy.

Tortajada A et al.

Kidney International, 2017

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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."