Varaico: Literature-Extracted Genetic Variants

Gene:CD59
Variant:p.C64Y
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CD59

NM_000611.6:p.C64Y

Associated Papers

Complement-membrane regulatory proteins are absent from the nodes of Ranvier in the peripheral nervous system.

Karbian N et al.

Journal of Neuroinflammation, 2023

Molecular pathogenesis of human CD59 deficiency.

Karbian N et al.

Neurology. Genetics, 2018

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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."