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
Congenital myasthenic syndrome-associated agrin variants affect clustering of acetylcholine receptors in a domain-specific manner.
Ohkawara B et al.
Jci Insight, 2020
Novel NtA and LG1 Mutations in Agrin in a Single Patient Causes Congenital Myasthenic Syndrome.
Wang A et al.
Frontiers in Neurology, 2020
Dissecting the Extracellular Complexity of Neuromuscular Junction Organizers.
Guarino SR et al.
Frontiers in Molecular Biosciences, 2019
Novel SEA and LG2 Agrin mutations causing congenital Myasthenic syndrome.
Xi J et al.
Orphanet Journal of Rare Diseases, 2017
A Novel Missense Variant in the AGRN Gene; Congenital Myasthenic Syndrome Presenting With Head Drop.
Karakaya M et al.
Journal of Clinical Neuromuscular Disease, 2017
Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy.
Nicole S et al.
Brain : a Journal of Neurology, 2014
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.
Beltrán-Valero de Bernabé D et al.
American Journal of Human Genetics, 2002
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