Varaico: Literature-Extracted Genetic Variants

Gene:LAMP2
Variant:p.V288_K289Splc
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LAMP2

NM_002294.3:p.V288_K289Splc

Associated Papers

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

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 › Splicing_--29_mutations

A Nationwide Survey on Danon Disease in Japan.

Sugie K et al.

International Journal of Molecular Sciences, 2018

A common and two novel GBA mutations in Thai patients with Gaucher disease.

Tammachote R et al.

Journal of Human Genetics, 2013

Danon disease: focusing on heart.

Cheng Z et al.

Journal of Human Genetics, 2012

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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."