Varaico: Literature-Extracted Genetic Variants

Gene:MUSK
Variant:p.C317R
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MUSK

NM_005592.4:p.C317R

Associated Papers

From phosphorylation to phenotype - Recent key findings on kinase regulation, downstream signaling and disease surrounding the receptor tyrosine kinase MuSK.

Prömer J et al.

Cellular Signalling, 2023

Congenital myasthenic syndrome due to mutations in MUSK suggests that the level of MuSK phosphorylation is crucial for governing synaptic structure.

Rodríguez Cruz PM et al.

Human Mutation, 2020

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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."