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
Alopecia in Patients with Collagen VI-Related Myopathies: A Novel/Unrecognized Scalp Phenotype.
Starace M et al.
International Journal of Molecular Sciences, 2023
Causative variant profile of collagen VI-related dystrophy in Japan.
Inoue M et al.
Orphanet Journal of Rare Diseases, 2021
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
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