Varaico: Literature-Extracted Genetic Variants

Gene:CFHR1
Variant:p.V7delFs
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CFHR1

NM_002113.3:p.V7delFs

Associated Papers

Genotypic analysis of a large cohort of patients with suspected atypical hemolytic uremic syndrome.

Connaughton DM et al.

Journal of Molecular Medicine (berlin, Germany), 2023

ClinVar: improvements to accessing data.

Landrum MJ et al.

Nucleic Acids Research, 2020

Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center's Experience.

Valencia CA et al.

Frontiers in Pediatrics, 2015

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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."