Varaico: Literature-Extracted Genetic Variants

Gene:CYP7B1
Variant:p.P398L
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CYP7B1

NM_004820.5:p.P398L

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

Phenoconversion from Spastic Paraplegia to ALS/FTD Associated with CYP7B1 Compound Heterozygous Mutations.

Theuriet J et al.

Genes, 2021

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

Marelli C et al.

Brain : a Journal of Neurology, 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."