Varaico: Literature-Extracted Genetic Variants

Gene:DOK7
Variant:p.P376insFs
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DOK7

NM_173660.5:p.P376insFs

Associated Papers

Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.

Westra D et al.

Journal of Neuromuscular Diseases, 2019

Dok-7 mutations underlie a neuromuscular junction synaptopathy.

Beeson D et al.

Science (new York, N.y.), 2006

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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."