Varaico: Literature-Extracted Genetic Variants

Gene:MUSK
Variant:p.A45V
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MUSK

NM_005592.4:p.A45V

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

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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."