Varaico: Literature-Extracted Genetic Variants

Gene:LAMP2
Variant:p.L325delFs
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LAMP2

NM_002294.3:p.L325delFs

Associated Papers

Clinical and Genetic Profile of Chinese Children With Danon Disease: A Single-Center Retrospective Cohort Study.

Zhang Q et al.

The Canadian Journal of Cardiology, 2025

Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.

Akawi N et al.

Frontiers in Molecular Biosciences, 2024

39411402 (PubMed )
Supplement: Table1.XLSX › Supplemental_Table_S12

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_S6-ClinVar-5_Frameshift_mutation-1.xlsx › Sheet_1_-_clinvar_result__2_

Danon disease: Two patients with atrial fibrillation in a single family and review of the literature.

Guo S et al.

Experimental and Therapeutic Medicine, 2019

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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."