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Article

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

Kidney international - 1 Feb 2018

Merinero Héctor Martín, García Sheila Pinto, García-Fernández Jesús, Arjona Emilia, Tortajada Agustín, Rodríguez de Córdoba Santiago

Abstract excerpt

Genetic analyses in atypical hemolytic uremic syndrome (aHUS) and C3-glomerulopathy (C3G) patients have provided an excellent understanding of the genetic component of the disease and informed genotype-phenotype correlations supporting an individualized approach to patient management and treatment. In this context, a correct categorization of the disease-associated gene variants is critical to avoid detrimental...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28941939
DOI: 10.1016/j.kint.2017.07.015

Genes

CFH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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