Varaico: Literature-Extracted Genetic Variants

Gene:CYP7B1
Variant:p.P397L
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CYP7B1

NM_004820.5:p.P397L

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

Potential markers for sample size estimations in hereditary spastic paraplegia type 5.

Lin Q et al.

Orphanet Journal of Rare Diseases, 2021

Clinical characteristics of Taiwanese patients with Hereditary spastic paraplegia type 5.

Chou CT et al.

Annals of Clinical and Translational Neurology, 2020

Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China.

Dong EL et al.

Molecular Neurodegeneration, 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."