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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MUSK

Variant:p.S851R

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MUSK

NM_005592.4:p.S851R

hg38:chr9:110800929 A>C

Associated Papers

Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1.

Szelinger S et al.

Neurology. Genetics, 2020

32754643 (PubMed )

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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."