Varaico: Literature-Extracted Genetic Variants

Gene:CFHR3
Variant:p.I280delFs
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CFHR3

NM_021023.6:p.I280delFs

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

Genomic Complexity Predicts Resistance to Endocrine Therapy and CDK4/6 Inhibition in Hormone Receptor-Positive (HR+)/HER2-Negative Metastatic Breast Cancer.

Davis AA et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023

36693175 (PubMed )
Supplement: ccr-22-2177_supplementary_data_s1_suppds1.xlsx › Variants

High prevalence of CFHR deletions in Indian women with pregnancy-associated hemolytic uremic syndrome.

Kandari S et al.

Nephrology (carlton, Vic.), 2022

Genetic abnormalities in biopsy-proven, adult-onset hemolytic uremic syndrome and C3 glomerulopathy.

Haydock L et al.

Journal of Molecular Medicine (berlin, Germany), 2022

34714369 (PubMed )
Supplement: 109_2021_2102_MOESM1_ESM.docx

Case 19-2018: A 15-Year-Old Girl with Acute Kidney Injury.

Kao AY et al.

The New England Journal of Medicine, 2018

Characterization of complement factor H-related (CFHR) proteins in plasma reveals novel genetic variations of CFHR1 associated with atypical hemolytic uremic syndrome.

Abarrategui-Garrido C et al.

Blood, 2009

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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."