Varaico: Literature-Extracted Genetic Variants

Gene:DMD
Variant:p.W2960*
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DMD

NM_004006.3:p.W2960*

Associated Papers

Deep characterization of females with heterozygous Duchenne muscular dystrophy mutations.

Riguzzi P et al.

Journal of Neurology, 2025

40035839 (PubMed )
Supplement: 415_2025_12987_MOESM1_ESM.pdf

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."