Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.R106_G107ins1
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GAA

NM_000152.5:p.R106_G107ins1

Associated Papers

GAA gene mutation detection following clinical evaluation and enzyme activity analysis in Azeri Turkish patients with Pompe disease.

Gharesouran J et al.

Metabolic Brain Disease, 2020

Mitochondrial Copy Number and D-Loop Variants in Pompe Patients.

Bahreini F et al.

Cell Journal, 2016

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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."