Varaico: Literature-Extracted Genetic Variants

Gene:CFH
Variant:p.A48S
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CFH

NM_000186.4:p.A48S

Associated Papers

Genetic investigation of Nordic patients with complement-mediated kidney diseases.

Rydberg V et al.

Frontiers in Immunology, 2023

37744338 (PubMed )
Supplement: DataSheet_1.xlsx › Sheet1

IgA nephropathy associated with a novel N-terminal mutation in factor H.

Schmitt R et al.

European Journal of Pediatrics, 2011

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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."