Varaico: Literature-Extracted Genetic Variants

Gene:LAMP2
Variant:p.K280delFs
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LAMP2

NM_002294.3:p.K280delFs

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

A Nationwide Survey on Danon Disease in Japan.

Sugie K et al.

International Journal of Molecular Sciences, 2018

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