Varaico: Literature-Extracted Genetic Variants

Gene:DOK7
Variant:p.E457delFs
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DOK7

NM_173660.5:p.E457delFs

Associated Papers

AChR deficiency due to epsilon-subunit mutations: two common mutations in the Netherlands.

Faber CG et al.

Journal of Neurology, 2009

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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."