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
When Breathing Becomes a Challenge: A Case of Congenital Myasthenia Gravis in an Indian Neonate With a DOK-7 Gene Mutation.
Mendpara V et al.
Cureus, 2023
Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7.
Ben Ammar A et al.
Journal of Neurology, 2010
Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission.
Müller JS et al.
Expert Reviews in Molecular Medicine, 2007
Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.
Müller JS et al.
Brain : a Journal of Neurology, 2007
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