Varaico: Literature-Extracted Genetic Variants

Gene:DOK7
Variant:p.A147A
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DOK7

NM_173660.5:p.A147A

Associated Papers

Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes.

Mihaylova V et al.

Brain : a Journal of Neurology, 2008

Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission.

Müller JS et al.

Expert Reviews in Molecular Medicine, 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."