Varaico: Literature-Extracted Genetic Variants

Gene:MGAM
Variant:p.G906R
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MGAM

NM_001365693.1:p.G906R

Associated Papers

Navigating Pompe Disease Assessment: A Comprehensive Scoping Review.

Nunes Campos L et al.

Cureus, 2024

Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness.

Johnson K et al.

Orphanet Journal of Rare Diseases, 2017

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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."