Varaico: Literature-Extracted Genetic Variants

Gene:TTC1
Variant:p.L14P
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TTC1

NM_003314.3:p.L14P

Associated Papers

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

Xing G et al.

Neuron, 2021

Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering.

Maselli RA et al.

Muscle & Nerve, 2003

Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome.

Ohno K et al.

American Journal of Human Genetics, 2002

Congenital myasthenic syndromes: A diverse array of molecular targets.

Engel AG et al.

Journal of Neurocytology, 0

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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."