Varaico: Literature-Extracted Genetic Variants

Gene:LAMP2
Variant:p.L325fs
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LAMP2

NM_002294.3:p.L325fs

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.

LAMP2 variants in four Chinese children with Danon disease: clinical and molecular analysis in a monocentric cohort.

Lu J et al.

Cardiology in the Young, 2025

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

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_deletions-36_mutations

The Value of Cardiac Magnetic Resonance Imaging in Identification of Rare Diseases Mimicking Hypertrophic Cardiomyopathy.

Fang T et al.

Journal of Clinical Medicine, 2021

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

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

Walsh R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27532257 (PubMed )
Supplement: gim201690x1.zip › Supplementary_Tables_resubmit.xlsx › Table_S1A

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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