Varaico: Literature-Extracted Genetic Variants

Gene:LAMP2
Variant:p.R351delFs
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LAMP2

NM_002294.3:p.R351delFs

Associated Papers

Single-cell exome sequencing reveals polyclonal seeding and TRPS1 mutations in colon cancer metastasis.

Cai J et al.

Signal Transduction and Targeted Therapy, 2024

39307879 (PubMed )
Supplement: 41392_2024_1960_MOESM6_ESM.xlsx › Table_S5

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

Danon disease: a case report and literature review.

Xu J et al.

Diagnostic Pathology, 2021

Clinical and molecular characterization of seven patients with Danon disease.

Wang XY et al.

Experimental and Therapeutic Medicine, 2021

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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."