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 care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean.
Verberne EA et al.
American Journal of Medical Genetics. Part A, 2022
Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations.
Schara U et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2010
Choline acetyltransferase structure reveals distribution of mutations that cause motor disorders.
Cai Y et al.
The Embo Journal, 2004
Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans.
Ohno K et al.
Proceedings of the National Academy of Sciences of the United States of America, 2001
The spectrum of congenital myasthenic syndromes.
Engel AG et al.
Molecular Neurobiology, 0
Congenital myasthenic syndromes: A diverse array of molecular targets.
Engel AG et al.
Journal of Neurocytology, 0
Select a paper to view details