Varaico: Literature-Extracted Genetic Variants

Gene:CFH
Variant:p.N1050N
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CFH

NM_000186.4:p.N1050N

Associated Papers

A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.

González-Del Pozo M et al.

Npj Genomic Medicine, 2022

35246562 (PubMed )
Supplement: 41525_2022_286_MOESM1_ESM.pdf

High-Throughput Genetic Testing for Thrombotic Microangiopathies and C3 Glomerulopathies.

Bu F et al.

Journal of the American Society of Nephrology : Jasn, 2016

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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."