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 evaluation of congenital myasthenic syndromes with long-term follow-up: experience of a tertiary center in Turkey.
Yildiz EP et al.
Acta Neurologica Belgica, 2023
Unfolding of Novel Independent Missense Mutations in VAMP2 and AGRN and Their Collective Role in Global Developmental Delay: A Case Report.
Heidarpour N et al.
Cureus, 2022
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
Novel SEA and LG2 Agrin mutations causing congenital Myasthenic syndrome.
Xi J et al.
Orphanet Journal of Rare Diseases, 2017
Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical Insights.
Yiş U et al.
Journal of Child Neurology, 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
Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders.
Chae JH et al.
Journal of Medical Genetics, 2015
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