Associated Papers
Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.
Kurtovic-Kozaric A et al.
Frontiers in Genetics, 2024
39720176 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1
A novel compound heterozygous mutation of COL6A3 in Chinese patients with isolated cervical dystonia.
Wu R et al.
Frontiers in Neurology, 2023
The role of mutations in COL6A3 in isolated dystonia.
Lohmann K et al.
Journal of Neurology, 2016
Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.
Zech M et al.
American Journal of Human Genetics, 2015
Select a paper to view details