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
KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors.
Natera-de Benito D et al.
Journal of Neurology, 2016
Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.
Müller JS et al.
Brain : a Journal of Neurology, 2007
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