Varaico: Literature-Extracted Genetic Variants

Gene:LAMP2
Variant:p.W321*
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LAMP2

NM_002294.3:p.W321*

Associated Papers

Genetic Spectrum, Clinical Characteristics, and Molecular Pathogenesis of Hypertrophic Cardiomyopathy Requiring Heart Transplantation.

Andreeva S et al.

Journal of Cardiovascular Development and Disease, 2025

Clinical manifestations and MRI features of Danon disease: a case series.

Zhang Y et al.

Bmc Cardiovascular Disorders, 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 › Missense_nonsense-44_Mutations

Case Report: Danon Disease: Six Family Members and Literature Review.

Wang Y et al.

Frontiers in Cardiovascular Medicine, 2022

Identification of Two Novel LAMP2 Gene Mutations in Danon Disease.

Csányi B et al.

The Canadian Journal of Cardiology, 2016

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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."