Varaico: Literature-Extracted Genetic Variants

Gene:UFC1
Variant:p.D85_I86Splc
Back to variants list

UFC1

NM_016406.4:p.D85_I86Splc

Associated Papers

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort.

Saparov A et al.

Annals of Neurology, 2026

Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.

Zech M et al.

Brain : a Journal of Neurology, 2025

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."