Associated Papers
Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing.
Lecoquierre F et al.
Scientific Reports, 2024
38438430 (PubMed )
Supplement: 41598_2024_53358_MOESM2_ESM.xlsx › Supp_table_1_variants_analyzed
Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy.
Luppe J et al.
European Journal of Human Genetics : Ejhg, 2023
The functions of Munc18-1 in regulated exocytosis.
Burgoyne RD et al.
Annals of the New York Academy of Sciences, 2009
S-nitrosylation of syntaxin 1 at Cys(145) is a regulatory switch controlling Munc18-1 binding.
Palmer ZJ et al.
The Biochemical Journal, 2008
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