Varaico: Literature-Extracted Genetic Variants

Gene:LAMP2
Variant:p.D81delFs
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LAMP2

NM_002294.3:p.D81delFs

Associated Papers

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

Danon disease: a case report and literature review.

Xu J et al.

Diagnostic Pathology, 2021

Identification of LAMP2 Mutations in Early-Onset Danon Disease With Hypertrophic Cardiomyopathy by Targeted Next-Generation Sequencing.

Fu L et al.

The American Journal of Cardiology, 2016

Danon disease: focusing on heart.

Cheng Z et al.

Journal of Human Genetics, 2012

A 13-year-old girl with proximal weakness and hypertrophic cardiomyopathy with Danon disease.

Kim H et al.

Muscle & Nerve, 2010

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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."