Varaico: Literature-Extracted Genetic Variants

Gene:LAMP2
Variant:p.S12*
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LAMP2

NM_002294.3:p.S12*

Associated Papers

C-Branched Iminosugars as Selective Pharmacological Chaperones of Lysosomal α-Glucosidase for the Treatment of Pompe Disease.

Vieira Da Cruz A et al.

Journal of Medicinal Chemistry, 2025

Danon Disease in a 14-Year-Old: An Exclusively Cardiac Phenotype.

Guerra EC et al.

Jacc. Case Reports, 2024

A Case Study and Literature Review of the Diagnosis of Danon Disease in Patients Presenting Only with Severe Cardiac Symptoms.

Sun YQ et al.

Pharmacogenomics and Personalized Medicine, 2023

Cardiac Phenotype Characterization at MRI in Patients with Danon Disease: A Retrospective Multicenter Case Series.

Wei X et al.

Radiology, 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."