Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.G359Splc
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GAA

NM_000152.5:p.G359Splc

Associated Papers

Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry.

Martinez-Marin RJ et al.

Neuromuscular Disorders : Nmd, 2024

Importance of Timely Treatment Initiation in Infantile-Onset Pompe Disease, a Single-Centre Experience.

de Las Heras J et al.

Children (basel, Switzerland), 2021

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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."