Varaico: Literature-Extracted Genetic Variants

Gene:EXOSC6
Variant:p.A88A
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EXOSC6

NM_058219.3:p.A88A

Associated Papers

Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes.

Richard P et al.

Journal of Medical Genetics, 2003

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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."