Varaico: Literature-Extracted Genetic Variants

Gene:LAMP2
Variant:p.V288V
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LAMP2

NM_002294.3:p.V288V

Associated Papers

Hypertrophic Cardiomyopathy versus Storage Diseases with Myocardial Involvement.

Burban A et al.

International Journal of Molecular Sciences, 2023

Danon Disease: Entire LAMP2 Gene Deletion with Unusual Clinical Presentation-Case Report and Review of the Literature.

Shalata A et al.

Genes, 2023

37628591 (PubMed )
Supplement: genes-14-01539-s001.zip › genes-2456230-supplementary › Supplementary_FIGURE_and_LAMP2_MUTATIONS_EXCEL_FILES › Table_S1-HGMD_LAMP2_gene_mutations.xlsx › Splicing_--29_mutations

Review: Danon disease: Review of natural history and recent advances.

Cenacchi G et al.

Neuropathology and Applied Neurobiology, 2020

A novel LAMP2 mutation associated with severe cardiac hypertrophy and microvascular remodeling in a female with Danon disease: a case report and literature review.

Bottillo I et al.

Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology, 0

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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."