Varaico: Literature-Extracted Genetic Variants

Gene:RAPSN
Variant:p.Q124*
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RAPSN

NM_005055.5:p.Q124*

Associated Papers

The role of Rapsyn in neuromuscular junction and congenital myasthenic syndrome.

Liao X et al.

Biomolecules & Biomedicine, 2023

Congenital myasthenic syndromes and the formation of the neuromuscular junction.

Beeson D et al.

Annals of the New York Academy of Sciences, 2008

Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes.

Burke G 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."