Varaico: Literature-Extracted Genetic Variants

Gene:CYP27A1
Variant:p.P112S
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CYP27A1

NM_000784.4:p.P112S

Associated Papers

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

Chou CT et al.

Annals of Clinical and Translational Neurology, 2020

CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.

Goizet C et al.

Brain : a Journal of Neurology, 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."