Variant: rs1560224831 

    present in Gene: DOK7
    present in Chromosome: 4
    Position on Chromosome: 3489765
    Alleles of this Variant: -/TCTC

rs1560224831 in DOK7 gene and Congenital myasthenic syndrome ib PMID 18626973 2008 Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients.

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

PMID 25237101 2014 Neuromuscular disease. DOK7 gene therapy benefits mouse models of diseases characterized by defects in the neuromuscular junction.

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

PMID 18165682 2008 Mutations causing DOK7 congenital myasthenia ablate functional motifs in Dok-7.

rs1560224831 in DOK7 gene and Pena-Shokeir syndrome type I PMID 25237101 2014 Neuromuscular disease. DOK7 gene therapy benefits mouse models of diseases characterized by defects in the neuromuscular junction.

PMID 18165682 2008 Mutations causing DOK7 congenital myasthenia ablate functional motifs in Dok-7.

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

PMID 18626973 2008 Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients.

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