Varaico: Literature-Extracted Genetic Variants

Gene:TTC1
Variant:p.N88K
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TTC1

NM_003314.3:p.N88K

Associated Papers

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

Xing G et al.

Neuron, 2021

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

Xing G et al.

Elife, 2019

Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations.

Cossins J et al.

Brain : a Journal of Neurology, 2006

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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."