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
Cardiopulmonary dysfunction in patients with limb-girdle muscular dystrophy 2A.
Mori-Yoshimura M et al.
Muscle & Nerve, 2017
Muscle-specific calpain-3 is phosphorylated in its unique insertion region for enrichment in a myofibril fraction.
Ojima K et al.
Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2014
Characterization of lobulated fibers in limb girdle muscular dystrophy type 2A by gene expression profiling.
Keira Y et al.
Neuroscience Research, 2007
Calpain 3 gene mutations: genetic and clinico-pathologic findings in limb-girdle muscular dystrophy.
Chae J et al.
Neuromuscular Disorders : Nmd, 2001
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