Varaico: Literature-Extracted Genetic Variants

Gene:CYP2U1
Variant:p.Q211*
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CYP2U1

NM_183075.3:p.Q211*

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG56

Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.

Abolhassani A et al.

Npj Genomic Medicine, 2024

38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_8

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

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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."