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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GAA

Variant:p.N925H

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GAA

NM_000152.5:p.N925H

hg38:chr17:80118779 A>C

Associated Papers

Navigating Pompe Disease Assessment: A Comprehensive Scoping Review.

Nunes Campos L et al.

Cureus, 2024

39677172 (PubMed )

Identification of two novel variants in GAA underlying infantile-onset Pompe disease in two Pakistani families.

Ullah A et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2020

32049654 (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."