Varaico: Literature-Extracted Genetic Variants

Gene:LAMP2
Variant:p.L325fs
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LAMP2

NM_002294.3:p.L325fs

Associated Papers

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

A Case Study and Literature Review of the Diagnosis of Danon Disease in Patients Presenting Only with Severe Cardiac Symptoms.

Sun YQ et al.

Pharmacogenomics and Personalized Medicine, 2023

Case Report: Identification of Mutations in LAMP2 in Two Chinese Infants With Danon Disease.

Zhang L et al.

Frontiers in Genetics, 2020

Early onset cardiomyopathy in females with Danon disease.

Hedberg Oldfors C et al.

Neuromuscular Disorders : Nmd, 2015

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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."