Varaico: Literature-Extracted Genetic Variants

Gene:RAPSN
Variant:p.Y86F
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RAPSN

NM_005055.5:p.Y86F

Associated Papers

Decoding Missense Variants by Incorporating Phase Separation via Machine Learning.

Feng M et al.

Nature Communications, 2024

39333476 (PubMed )
Supplement: 41467_2024_52580_MOESM4_ESM.xlsx › impact_ps_mutations

Membraneless condensates by Rapsn phase separation as a platform for neuromuscular junction formation.

Xing G et al.

Neuron, 2021

Rapsyn as a signaling and scaffolding molecule in neuromuscular junction formation and maintenance.

Xing G et al.

Neuroscience Letters, 2020

A mechanism in agrin signaling revealed by a prevalent Rapsyn mutation in congenital myasthenic syndrome.

Xing G et al.

Elife, 2019

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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."