Varaico: Literature-Extracted Genetic Variants

Gene:CYP7B1
Variant:p.G87V
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CYP7B1

NM_004820.5:p.G87V

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

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Zhang Y et al.

Molecular Neurobiology, 2021

33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM12_ESM.xlsx › Sheet3

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

Chou CT et al.

Annals of Clinical and Translational Neurology, 2020

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

Schöls L et al.

Brain : a Journal of Neurology, 2017

Somatosensory conduction pathway in spastic paraplegia type 5.

Vanotti A et al.

Journal of Clinical Neurology (seoul, Korea), 2014

Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations.

Arnoldi A et al.

Clinical Genetics, 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

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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."