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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MUSK

Variant:p.K69Splc

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MUSK

NM_005592.4:p.K69Splc

hg38:chr9:110687116 G>T

Associated Papers

Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission.

Müller JS et al.

Expert Reviews in Molecular Medicine, 2007

17686188 (PubMed )

Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.

Müller JS et al.

Brain : a Journal of Neurology, 2007

17439981 (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."