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
Structure of a collagen VI α3 chain VWA domain array: adaptability and functional implications of myopathy causing mutations.
Solomon-Degefa H et al.
The Journal of Biological Chemistry, 2020
Two novel COL6A3 mutations disrupt extracellular matrix formation and lead to myopathy from Ullrich congenital muscular dystrophy and Bethlem myopathy spectrum.
Marakhonov AV et al.
Gene, 2018
A structure of a collagen VI VWA domain displays N and C termini at opposite sides of the protein.
Becker AK et al.
Structure (london, England : 1993), 2014
Molecular consequences of dominant Bethlem myopathy collagen VI mutations.
Baker NL et al.
Annals of Neurology, 2007
Select a paper to view details