Varaico: Literature-Extracted Genetic Variants

Gene:CYP7B1
Variant:p.R361*
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CYP7B1

NM_004820.5:p.R361*

Associated Papers

Estimating the Prevalence of Autosomal Recessive Neuromuscular Diseases in the Korean Population.

Kim SH et al.

Journal of Korean Medical Science, 2025

40390582 (PubMed )
Supplement: jkms-40-e68-s003.xls › jkms-40-e68-s003

Review of the Genetic Spectrum of Hereditary Spastic Paraplegias in the Middle East and North Africa Regions.

Salari M et al.

Neurology. Genetics, 2025

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

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

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

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

Schöls L et al.

Brain : a Journal of Neurology, 2017

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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."