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
Genetic and clinical findings in a Chinese cohort of patients with collagen VI-related myopathies.
Fan Y et al.
Clinical Genetics, 2018
Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.
Pace RA et al.
Annals of Neurology, 2008
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