Varaico: Literature-Extracted Genetic Variants

Gene:COASY
Variant:p.Y153insFs
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COASY

NM_025233.7:p.Y153insFs

Associated Papers

Neurodegeneration with Brain Iron Accumulation and a Brief Report of the Disease in Iran.

Hajati R et al.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2022

Pathogenic mechanism and modeling of neuroferritinopathy.

Cozzi A et al.

Cellular and Molecular Life Sciences : Cmls, 2021

Neuroferritinopathy: From ferritin structure modification to pathogenetic mechanism.

Levi S et al.

Neurobiology of Disease, 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."