Varaico: Literature-Extracted Genetic Variants

Gene:CYP7B1
Variant:p.K107fs
Back to variants list

CYP7B1

NM_004820.5:p.K107fs

Associated Papers

Diagnostic Yield and Genotype-Phenotype Correlations of Clinical Exome Sequencing in Hereditary Spastic Paraparesis: Experience From Eastern Spain.

Carretero-Vilarroig L et al.

European Journal of Neurology, 2026

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."