Varaico: Literature-Extracted Genetic Variants

Gene:CYP7B1
Variant:p.L487fs
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CYP7B1

NM_004820.5:p.L487fs

Associated Papers

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

Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing.

Lynch DS et al.

European Journal of Human Genetics : Ejhg, 2016

Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia.

Kumar KR et al.

Journal of Neurology, 2013

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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."