Varaico: Literature-Extracted Genetic Variants

Gene:CYP7B1
Variant:p.E411_E412Splc
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CYP7B1

NM_004820.5:p.E411_E412Splc

Associated Papers

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

Chou CT et al.

Annals of Clinical and Translational Neurology, 2020

Mutational analysis of the CYP7B1, PNPLA6 and C19orf12 genes in autosomal recessive hereditary spastic paraplegia.

Schubert SF et al.

Molecular and Cellular Probes, 2016

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."