Varaico: Literature-Extracted Genetic Variants

Gene:DOK7
Variant:p.Y160*
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DOK7

NM_173660.5:p.Y160*

Associated Papers

Phenotypic Differences in 2 Unrelated Cases Carrying Identical DOK7 Mutations.

Bissay V et al.

Journal of Clinical Neuromuscular Disease, 2019

Congenital myasthenic syndrome: a case report.

Ceylan A et al.

Genetic Counseling (geneva, Switzerland), 2011

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

Variable phenotypes associated with mutations in DOK7.

Anderson JA et al.

Muscle & Nerve, 2008

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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."