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
Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes.
Zanotti S et al.
International Journal of Molecular Sciences, 2023
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
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