Varaico: Literature-Extracted Genetic Variants

Gene:DOK7
Variant:p.Y395*
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DOK7

NM_173660.5:p.Y395*

Associated Papers

Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders.

Chae JH et al.

Journal of Medical Genetics, 2015

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

Cossins J et al.

Human Molecular Genetics, 2012

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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."