Varaico: Literature-Extracted Genetic Variants

Gene:CD59
Variant:p.D49V
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CD59

NM_000611.6:p.D49V

Associated Papers

Genetic variants in the CD59 gene: An exploratory study of large genome databases.

Srivastava K et al.

Transfusion, 2025

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

Inherited CD59 deficiency, where neurology and genetics intertwine.

Almutawea LM et al.

Neurosciences (riyadh, Saudi Arabia), 2023

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

Uncontrolled inflammation of the nervous system: Inherited CD59 deficiency.

Yuksel D et al.

Neurology. Clinical Practice, 2018

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

Tabib A et al.

Molecular Immunology, 2017

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar

Devastating recurrent brain ischemic infarctions and retinal disease in pediatric patients with CD59 deficiency.

Ben-Zeev B et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2015

Early-onset chronic axonal neuropathy, strokes, and hemolysis: inherited CD59 deficiency.

Haliloglu G et al.

Neurology, 2015

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