Varaico: Literature-Extracted Genetic Variants

Gene:CD59
Variant:p.D49delFs
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CD59

NM_000611.6:p.D49delFs

Associated Papers

Tracing a Rare Genetic Disease: Familial Congenital CD59 Deficiency and Carrier Cases Identified Through Village Screening.

Sefika Ilknur KK et al.

Journal of Pediatric Hematology/oncology, 2025

CD59-Regulated Ras Compartmentalization Orchestrates Antitumor T-cell Immunity.

Li L et al.

Cancer Immunology Research, 2022

A Splice Site Mutation Associated with Congenital CD59 Deficiency.

Chai JN et al.

Hematology Reports, 2022

Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy.

Duchateau L et al.

Plos One, 2019

CD59 deficiency presenting as polyneuropathy and Moyamoya syndrome with endothelial abnormalities of small brain vessels.

Klemann C et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2018

Demyelination, strokes, and eculizumab: Lessons from the congenital CD59 gene mutations.

Tabib A et al.

Molecular Immunology, 2017

International society of blood transfusion working party on red cell immunogenetics and terminology: report of the Seoul and London meetings.

Storry JR et al.

Isbt Science Series, 2016

A new blood group antigen is defined by anti-CD59, detected in a CD59-deficient patient.

Anliker M et al.

Transfusion, 2014

Targeted therapy with eculizumab for inherited CD59 deficiency.

Höchsmann B et al.

The New England Journal of Medicine, 2014

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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."