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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MGAM

Variant:p.L844_N847del0

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MGAM

NM_001365693.1:p.L844_N847del0

hg38:chr7:142047814 CCCTAGATGAGAA>C

Associated Papers

Analysis of the Italian cohort of late-onset Pompe disease (LOPD) patients after 10 and 15 years of therapy with alglucosidase alfa.

Mongini T et al.

Journal of Neurology, 2025

40643754 (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."