Varaico: Literature-Extracted Genetic Variants

Gene:CYP7B1
Variant:p.H401R
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CYP7B1

NM_004820.5:p.H401R

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

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

The mutational profile in a South African cohort with inherited neuropathies and spastic paraplegia.

Mahungu AC et al.

Frontiers in Neurology, 2023

Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China.

Dong EL et al.

Molecular Neurodegeneration, 2018

29980238 (PubMed )
Supplement: 13024_2018_269_MOESM1_ESM.xlsx › Table_S1

Clinical and genetic analysis of Taiwanese patients with hereditary spastic paraplegia type 5.

Lan MY et al.

European Journal of Neurology, 2015

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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."