Varaico: Literature-Extracted Genetic Variants

Gene:LAMP2
Variant:p.L325insFs
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LAMP2

NM_002294.3:p.L325insFs

Associated Papers

Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.

García Hernandez S et al.

Circulation, 2025

40879562 (PubMed )
Supplement: cir-152-1060-s002.xlsx › S2._HCM_cohort_variant_classif.

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

A novel frameshift variant in LAMP2 gene mimicking choroideremia carrier retinopathy.

Narayan A et al.

Ophthalmic Genetics, 2024

Endovascular treatment in Danon disease: a case report.

Jiménez-Bolaños R et al.

Journal of Medical Case Reports, 2024

Multinational experience with next-generation sequencing: opportunity to identify transthyretin cardiac amyloidosis and Fabry disease.

Silva SME et al.

Cardiovascular Diagnosis and Therapy, 2024

Paediatric hypertrophic cardiomyopathy secondary to Danon disease.

Tang K et al.

Cardiology in the Young, 2024

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 › Small_insertions-_15_mutations

Danon disease: a case report and literature review.

Xu J et al.

Diagnostic Pathology, 2021

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

Wei X et al.

Radiology, 2021

Prevalence and clinical characteristics of Danon disease among patients with left ventricular hypertrophy and concomitant electrocardiographic preexcitation.

Liu Y et al.

Molecular Genetics & Genomic Medicine, 2019

A Nationwide Survey on Danon Disease in Japan.

Sugie K et al.

International Journal of Molecular Sciences, 2018

Identification of Two Novel LAMP2 Gene Mutations in Danon Disease.

Csányi B et al.

The Canadian Journal of Cardiology, 2016

Wolff Parkinson white pattern in Danon disease: When preexcitation is not what it seems.

Montañés ME et al.

Journal of Electrocardiology, 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."