Varaico: Literature-Extracted Genetic Variants

Gene:CYP7B1
Variant:p.F470I
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CYP7B1

NM_004820.5:p.F470I

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG5

Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5.

Marelli C et al.

Brain : a Journal of Neurology, 2018

Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial.

Schöls L et al.

Brain : a Journal of Neurology, 2017

Comparative modeling of 25-hydroxycholesterol-7α-hydroxylase (CYP7B1): ligand binding and analysis of hereditary spastic paraplegia type 5 CYP7B1 mutations.

Siam A et al.

Journal of Molecular Modeling, 2012

Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients.

Schlipf NA et al.

Clinical Genetics, 2011

CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.

Goizet C et al.

Brain : a Journal of Neurology, 2009

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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."