Varaico: Literature-Extracted Genetic Variants

Gene:DOK7
Variant:p.S422L
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DOK7

NM_173660.5:p.S422L

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

Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.

Müller JS et al.

Brain : a Journal of Neurology, 2007

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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."