Associated Papers
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Malmgren H et al.
Frontiers in Genetics, 2025
40620702 (PubMed )
Supplement: Supplementaryfile1.XLSX › Blad1
Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.
Yuan B et al.
Genome Medicine, 2022
36180924 (PubMed )
Supplement: 13073_2022_1113_MOESM1_ESM.xlsx › Table_S6
Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants in SLC18A3.
Della Marina A et al.
Cells, 2021
Functional and Biochemical Consequences of Disease Variants in Neurotransmitter Transporters: A Special Emphasis on Folding and Trafficking Deficits.
Bhat S et al.
Pharmacology & Therapeutics, 2021
Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome.
Aran A et al.
Neurology, 2017
Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome.
O'Grady GL et al.
Neurology, 2016
Possible important pair of acidic residues in vesicular acetylcholine transporter.
Khare P et al.
Biochemistry, 2010
Mutational and pH analysis of ionic residues in transmembrane domains of vesicular acetylcholine transporter.
Bravo DT et al.
Biochemistry, 2005
Mutational analysis of basic residues in the rat vesicular acetylcholine transporter. Identification of a transmembrane ion pair and evidence that histidine is not involved in proton translocation.
Kim MH et al.
The Journal of Biological Chemistry, 2000
Select a paper to view details