Varaico: Literature-Extracted Genetic Variants

Gene:DMD
Variant:p.Q241*
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DMD

NM_004006.3:p.Q241*

Associated Papers

Safety and effectiveness of ataluren in patients with Duchenne muscular dystrophy: single-center experience from Saudi Arabia.

Ahmad M et al.

The Journal of International Medical Research, 2024

Point mutations in Czech DMD/BMD patients and their phenotypic outcome.

Sedlácková J et al.

Neuromuscular Disorders : Nmd, 2009

Experience and strategy for the molecular testing of Duchenne muscular dystrophy.

Prior TW et al.

The Journal of Molecular Diagnostics : Jmd, 2005

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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."