Varaico: Literature-Extracted Genetic Variants

Gene:CD46
Variant:p.D33H
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CD46

NM_172351.3:p.D33H

Associated Papers

Complement gene variant effect on relapse of complement-mediated thrombotic microangiopathy after eculizumab cessation.

Acosta-Medina AA et al.

Blood Advances, 2023

35533258 (PubMed )
Supplement: BLOODA_ADV-2021-006416-mmc1.pdf

Eculizumab discontinuation in children and adults with atypical hemolytic-uremic syndrome: a prospective multicenter study.

Fakhouri F et al.

Blood, 2021

Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy.

Osborne AJ et al.

Journal of Immunology (baltimore, Md. : 1950), 2018

Complement regulator CD46: genetic variants and disease associations.

Liszewski MK et al.

Human Genomics, 2015

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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."