Varaico: Literature-Extracted Genetic Variants

Gene:LAMP2
Variant:p.V352fs
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LAMP2

NM_002294.3:p.V352fs

Associated Papers

The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.

Fernandez-Falgueras A et al.

Plos One, 2024

38691546 (PubMed )
Supplement: pone.0297914.s001.xlsx › Hoja1

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

Clinical and molecular characterization of seven patients with Danon disease.

Wang XY et al.

Experimental and Therapeutic Medicine, 2021

Clinical Findings and Prognosis of Danon Disease. An Analysis of the Spanish Multicenter Danon Registry.

López-Sainz Á et al.

Revista Espanola De Cardiologia (english Ed.), 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."