Variant: rs201479289 

    present in Gene: CHAT
    present in Chromosome: 10
    Position on Chromosome: 49619743
    Alleles of this Variant: G/A

rs201479289 in CHAT gene and Familial infantile myasthenia PMID 21786365 2011 Functional consequences and structural interpretation of mutations of human choline acetyltransferase.

PMID 28497657 2017 A rapid gene sequencing panel strategy to facilitate precision neonatal medicine.

PMID 26080897 2015 Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype-Phenotype Correlations.

rs201479289 in CHAT gene and Myasthenic Syndromes, Congenital PMID 26080897 2015 Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype-Phenotype Correlations.

PMID 21786365 2011 Functional consequences and structural interpretation of mutations of human choline acetyltransferase.