Variant: rs768892432 

    present in Gene: DOK7;LOC105374355
    present in Chromosome: 4
    Position on Chromosome: 3476524
    Alleles of this Variant: G/A

rs768892432 in DOK7;LOC105374355 gene and Pena-Shokeir syndrome type I PMID 20012313 2010 Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7.