Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.Q225*
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GAA

NM_000152.5:p.Q225*

Associated Papers

Is early detection of late-onset Pompe disease a pneumologist's affair? A lesson from an Italian screening study.

Confalonieri M et al.

Orphanet Journal of Rare Diseases, 2019

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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."