Varaico: Literature-Extracted Genetic Variants

Gene:MUSK
Variant:p.L83R
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MUSK

NM_005592.4:p.L83R

Associated Papers

Agrin binds to the N-terminal region of Lrp4 protein and stimulates association between Lrp4 and the first immunoglobulin-like domain in muscle-specific kinase (MuSK).

Zhang W et al.

The Journal of Biological Chemistry, 2011

Crystal structure of the agrin-responsive immunoglobulin-like domains 1 and 2 of the receptor tyrosine kinase MuSK.

Stiegler AL et al.

Journal of Molecular Biology, 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."