Varaico: Literature-Extracted Genetic Variants

Gene:CD46
Variant:p.D185N
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CD46

NM_172351.3:p.D185N

Associated Papers

Complement gene mutations in children with C3 glomerulopathy: do they affect the response to mycophenolate mofetil?

Günay N et al.

Pediatric Nephrology (berlin, Germany), 2024

Regulators of complement activity mediate inhibitory mechanisms through a common C3b-binding mode.

Forneris F et al.

The Embo Journal, 2016

27013439 (PubMed )
Supplement: EMBJ-35-1133-s001.pdf

Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders.

van Schouwenburg PA et al.

Clinical Immunology (orlando, Fla.), 2015

26122175 (PubMed )
Supplement: NIHMS64345-supplement-Supplementary_tables.xlsx › Table_S5

Atypical hemolytic uremic syndrome.

Kavanagh D et al.

Seminars in Nephrology, 2013

The interactive Factor H-atypical hemolytic uremic syndrome mutation database and website: update and integration of membrane cofactor protein and Factor I mutations with structural models.

Saunders RE et al.

Human Mutation, 2007

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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."