Varaico: Literature-Extracted Genetic Variants

Gene:DOK7
Variant:p.A380_P381Fs
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DOK7

NM_173660.5:p.A380_P381Fs

Associated Papers

When Breathing Becomes a Challenge: A Case of Congenital Myasthenia Gravis in an Indian Neonate With a DOK-7 Gene Mutation.

Mendpara V et al.

Cureus, 2023

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

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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."