Varaico: Literature-Extracted Genetic Variants

Gene:RAPSN
Variant:p.E344insFs
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RAPSN

NM_005055.5:p.E344insFs

Associated Papers

Congenital myasthenic syndromes: progress over the past decade.

Engel AG et al.

Muscle & Nerve, 2003

Congenital myasthenic syndromes: genetic defects of the neuromuscular junction.

Ohno K et al.

Current Neurology and Neuroscience Reports, 2002

Congenital myasthenic syndromes.

Engel AG et al.

Advances in Neurology, 2002

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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."