Varaico: Literature-Extracted Genetic Variants

Gene:DMD
Variant:p.S147*
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DMD

NM_004006.3:p.S147*

Associated Papers

Evaluating Genetic Modifiers of Duchenne Muscular Dystrophy Disease Progression Using Modeling and MRI.

Barnard AM et al.

Neurology, 2022

Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation Duchenne muscular dystrophy.

Finkel RS et al.

Plos One, 2013

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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."