Varaico: Literature-Extracted Genetic Variants

Gene:CFHR1
Variant:p.L290V
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CFHR1

NM_002113.3:p.L290V

Associated Papers

The human factor H protein family - an update.

Sándor N et al.

Frontiers in Immunology, 2024

38410512 (PubMed )
Supplement: DataSheet_1.pdf

Genetic variability shapes the alternative pathway complement activity and predisposition to complement-related diseases.

Rodríguez de Córdoba S

Immunological Reviews, 2023

The Factor H protein family: The switchers of the complement alternative pathway.

Lucientes-Continente L et al.

Immunological Reviews, 2023

Factor H-Related Protein 1 Drives Disease Susceptibility and Prognosis in C3 Glomerulopathy.

Márquez-Tirado B et al.

Journal of the American Society of Nephrology : Jasn, 2022

Molecular bases for the association of FHR-1 with atypical hemolytic uremic syndrome and other diseases.

Martin Merinero H et al.

Blood, 2021

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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."