Variant: rs118203994 

    present in Gene: DOK7
    present in Chromosome: 4
    Position on Chromosome: 3485545
    Alleles of this Variant: G/A;C

rs118203994 in DOK7 gene and Congenital myasthenic syndrome ib PMID 17439981 2007 Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.

PMID 20012313 2010 Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7.

PMID 22661499 2012 The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.

PMID 16917026 2006 Dok-7 mutations underlie a neuromuscular junction synaptopathy.

PMID 20603078 2010 The cytoplasmic adaptor protein Dok7 activates the receptor tyrosine kinase MuSK via dimerization.