Varaico: Literature-Extracted Genetic Variants

Gene:MAK
Variant:p.G291D
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MAK

NM_001242957.3:p.G291D

Associated Papers

Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients.

Müller JS et al.

Neurology, 2003

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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."