Varaico: Literature-Extracted Genetic Variants

Gene:RAPSN
Variant:p.Q120delFs
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RAPSN

NM_005055.5:p.Q120delFs

Associated Papers

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

Liao X et al.

Biomolecules & Biomedicine, 2023

Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations.

Natera-de Benito D et al.

Neuromuscular Disorders : Nmd, 2016

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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."