Varaico: Literature-Extracted Genetic Variants

Gene:LAMP2
Variant:p.N275H
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LAMP2

NM_002294.3:p.N275H

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_S4-ClinVar-3_Missense_Mutation-1.xlsx › Sheet_1_-_clinvar_result__4_
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