Varaico: Literature-Extracted Genetic Variants

Gene:LAMP2
Variant:p.V288_K289Splc
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LAMP2

NM_002294.3:p.V288_K289Splc

Associated Papers

Regression of massive left ventricular hypertrophy in Danon disease.

Mannion J et al.

Acta Cardiologica, 2026

A Pathogenic LAMP2 Non-Canonical Splice Site Mutation Caused Danon Disease Requiring Heart Transplantation.

Abe R et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2024

Altered Splicing of LAMP2 in a Multigenerational Family from Latvia Affected by Danon Disease.

Stavusis J et al.

Medicina (kaunas, Lithuania), 2024

Hypertrophic Cardiomyopathy versus Storage Diseases with Myocardial Involvement.

Burban A et al.

International Journal of Molecular Sciences, 2023

Identification of a novel splicing-altering LAMP2 variant in a Chinese family with Danon disease.

Fu D et al.

Esc Heart Failure, 2023

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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."