Varaico: Literature-Extracted Genetic Variants

Gene:CYP7B1
Variant:p.L308_L309insA
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CYP7B1

NM_004820.5:p.L308_L309insA

Associated Papers

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

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

Schlipf NA et al.

Clinical Genetics, 2011

Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis.

Schüle R et al.

Journal of Lipid Research, 2010

Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia.

Schüle R et al.

Neurogenetics, 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."