Varaico: Literature-Extracted Genetic Variants

Gene:DOK7
Variant:p.S371*
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DOK7

NM_173660.5:p.S371*

Associated Papers

Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.

Polavarapu K et al.

Brain : a Journal of Neurology, 2024

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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."