Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.Q255*
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GAA

NM_000152.5:p.Q255*

Associated Papers

Newborn Screening for Pompe Disease.

Sawada T et al.

International Journal of Neonatal Screening, 2020

Two novel mutations in acid α-glucosidase gene in two patients with Pompe disease.

Aykut A et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2014

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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."