Varaico: Literature-Extracted Genetic Variants

Gene:DOK7
Variant:p.*505R
Back to variants list

DOK7

NM_173660.5:p.*505R

Associated Papers

Postnatal knockdown of dok-7 gene expression in mice causes structural defects in neuromuscular synapses and myasthenic pathology.

Eguchi T et al.

Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2016

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

Cossins J et al.

Human Molecular Genetics, 2012

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

Ben Ammar A et al.

Journal of Neurology, 2010

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

Selcen D et al.

Annals of Neurology, 2008

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."