Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.L248R
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GAA

NM_000152.5:p.L248R

Associated Papers

Protein Predictive Modeling and Simulation of Mutations of Presenilin-1 Familial Alzheimer's Disease on the Orthosteric Site.

Soto-Ospina A et al.

Frontiers in Molecular Biosciences, 2021

Abnormalities of cerebral arteries are frequent in patients with late-onset Pompe disease.

Sacconi S et al.

Journal of Neurology, 2010

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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."