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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MB

Variant:p.Q114insFs

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MB

NM_005368.3:p.Q114insFs

hg38:chr22:35607422 G>GA

Associated Papers

Infantile Pompe disease with intrauterine onset: a case report and literature review.

Xi H et al.

Italian Journal of Pediatrics, 2022

36411466 (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."