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_S3-ClinVar-2_ikely_Pathogenic_Mutations-1.xlsx › Sheet_1_-_clinvar_result
Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.
Koprivica V et al.
American Journal of Human Genetics, 2000
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