Varaico: Literature-Extracted Genetic Variants

Gene:DMD
Variant:p.E5E
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DMD

NM_004006.3:p.E5E

Associated Papers

Targeted modification of cis-elements in the CUL3 gene to restore exon 9 inclusion for treating Gordon syndrome.

Shi X et al.

Human Genomics, 2025

Downregulation of Dystrophin Expression Occurs across Diverse Tumors, Correlates with the Age of Onset, Staging and Reduced Survival of Patients.

Alnassar N et al.

Cancers, 2023

36900171 (PubMed )
Supplement: cancers-15-01378-s001.zip › cancers-2144737-supplementary_1_ › Supplementary_File_S2.xlsx › Low___High_DMD___Primary_Tumors

Prime editing optimized RTT permits the correction of the c.8713C>T mutation in DMD gene.

Happi Mbakam C et al.

Molecular Therapy. Nucleic Acids, 2022

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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."