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
New Clinical and Immunofluoresence Data of Collagen VI-Related Myopathy: A Single Center Cohort of 69 Patients.
Merlini L et al.
International Journal of Molecular Sciences, 2023
Autophagy activation in COL6 myopathic patients by a low-protein-diet pilot trial.
Castagnaro S et al.
Autophagy, 2016
Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies.
Tagliavini F et al.
Biochimica Et Biophysica Acta, 2014
Macrophages: a minimally invasive tool for monitoring collagen VI myopathies.
Gualandi F et al.
Muscle & Nerve, 2011
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