Varaico: Literature-Extracted Genetic Variants

Gene:CYP2U1
Variant:p.L21fs
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CYP2U1

NM_183075.3:p.L21fs

Associated Papers

CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56.

Durand CM et al.

Human Mutation, 2018

CYP2U1 mutations in two Iranian patients with activity induced dystonia, motor regression and spastic paraplegia.

Kariminejad A et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2016

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.

Tesson C et al.

American Journal of Human Genetics, 2012

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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."