Varaico: Literature-Extracted Genetic Variants

Gene:DOK7
Variant:p.K207*
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DOK7

NM_173660.5:p.K207*

Associated Papers

[Beneficial effects of 3,4-diaminopyridine in a 26-year-old woman with DOK7 congenital myasthenic syndrome who was originally diagnosed with facioscapulohumeral dystrophy].

Nishikawa A et al.

Rinsho Shinkeigaku = Clinical Neurology, 2014

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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."