Varaico: Literature-Extracted Genetic Variants

Gene:PLEK
Variant:p.G158D
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PLEK

NM_002664.3:p.G158D

Associated Papers

The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.

Cossins J et al.

Human Molecular Genetics, 2012

Clinical features of the DOK7 neuromuscular junction synaptopathy.

Palace J 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."