Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.K849fs
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GAA

NM_000152.5:p.K849fs

Associated Papers

Late-Onset Pompe Disease with Nemaline Bodies.

Frezza E et al.

Case Reports in Neurological Medicine, 2018

Frequency of Cerebrovascular Abnormalities in Patients with Late-Onset Pompe Disease: Our Experience.

Sancricca C et al.

Journal of Neuromuscular Diseases, 0

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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."