Varaico: Literature-Extracted Genetic Variants

Gene:CD46
Variant:p.K159Splc
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CD46

NM_172351.3:p.K159Splc

Associated Papers

Immunologic and Genetic Contributors to CD46-Dependent Immune Dysregulation.

Meyer BJ et al.

Journal of Clinical Immunology, 2023

Atypical hemolytic uremic syndrome in the era of terminal complement inhibition: an observational cohort study.

Brocklebank V et al.

Blood, 2023

37369098 (PubMed )
Supplement: BLOOD_BLD-2022-018833R2-mmc1.pdf

A novel CD46 mutation in a patient with microangiopathy clinically resembling thrombotic thrombocytopenic purpura and normal ADAMTS13 activity.

Rossio R et al.

Haematologica, 2015

Eculizumab for dense deposit disease and C3 glomerulonephritis.

Bomback AS et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2012

A rare pathogenic MCP mutation in patient with congenital TTP.

Masnic F et al.

Hematology, Transfusion and Cell Therapy, 0

Recurrent C3 Glomerulonephritis with an ADAMTS 13 Gene Variant: A Case Report and Literature Review.

Zahrani RAA et al.

Saudi Journal of Kidney Diseases and Transplantation : an Official Publication of the Saudi Center for Organ Transplantation, Saudi Arabia, 0

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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."