Varaico: Literature-Extracted Genetic Variants

Gene:CD46
Variant:p.C64Y
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CD46

NM_172351.3:p.C64Y

Associated Papers

Functional evaluation of rare variants in complement factor I using a minigene assay.

Donelson CJH et al.

Frontiers in Immunology, 2024

39238643 (PubMed )
Supplement: Datasheet1.pdf

Complement Factor I Variants in Complement-Mediated Renal Diseases.

Zhang Y et al.

Frontiers in Immunology, 2022

Clinical characteristics and genetic backgrounds of Japanese patients with atypical hemolytic uremic syndrome.

Fujisawa M et al.

Clinical and Experimental Nephrology, 2018

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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."