Condition: MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC
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.