Varaico: Literature-Extracted Genetic Variants

Gene:IGF2BP2
Variant:p.P398delFs
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IGF2BP2

NM_006548.6:p.P398delFs

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."