Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.K114insFs
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GAA

NM_000152.5:p.K114insFs

Associated Papers

Benefits of Prophylactic Short-Course Immune Tolerance Induction in Patients With Infantile Pompe Disease: Demonstration of Long-Term Safety and Efficacy in an Expanded Cohort.

Desai AK et al.

Frontiers in Immunology, 2020

Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease.

Messinger YH et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2012

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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."