Varaico: Literature-Extracted Genetic Variants

Gene:DMD
Variant:p.Q249*
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DMD

NM_004006.3:p.Q249*

Associated Papers

Muscle Magnetic Resonance Imaging in Patients with Various Clinical Subtypes of LMNA-Related Muscular Dystrophy.

Lin HT et al.

Chinese Medical Journal, 2018

Mutation spectrum of dystrophin gene in malaysian patients with Duchenne/Becker muscular dystrophy.

Rani AQ et al.

Journal of Neurogenetics, 2013

Two closely spaced nonsense mutations in the DMD gene in a Malaysian family.

Rani AQ et al.

Molecular Genetics and Metabolism, 2011

Screening of dystrophin gene deletions in Malaysian patients with Duchenne muscular dystrophy.

Marini M et al.

The Medical Journal of Malaysia, 2008

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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."