Varaico: Literature-Extracted Genetic Variants

Gene:DMD
Variant:p.E794*
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DMD

NM_004006.3:p.E794*

Associated Papers

Comprehensive analysis of 2097 patients with dystrophinopathy based on a database from 2011 to 2021.

Zhao L et al.

Orphanet Journal of Rare Diseases, 2024

39182149 (PubMed )
Supplement: 13023_2024_3217_MOESM2_ESM.docx

One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography.

Torella A et al.

The Journal of Molecular Diagnostics : Jmd, 2010

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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."