Variant: rs142345927 

    present in Gene: MYO9A
    present in Chromosome: 15
    Position on Chromosome: 71830301
    Alleles of this Variant: C/T

rs142345927 in MYO9A gene and MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC PMID 30237576 2019 Autozygome and high throughput confirmation of disease genes candidacy.

PMID 27259756 2016 Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome.

PMID 26752647 2016 Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.