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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MSN

Variant:p.I280_L281ins0

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MSN

NM_002444.3:p.I280_L281ins0

hg38:chrX:65735309 A>ATCT

Associated Papers

Investigating Late-Onset Pompe Prevalence in Neuromuscular Medicine Academic Practices: The IPaNeMA Study.

Wencel M et al.

Neurology. Genetics, 2021

36299500 (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."