Varaico: Literature-Extracted Genetic Variants

Gene:DMD
Variant:p.E789*
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DMD

NM_004006.3:p.E789*

Associated Papers

Genetic Profile of the Dystrophin Gene Reveals New Mutations in Colombian Patients Affected with Muscular Dystrophinopathy.

Triana-Fonseca P et al.

The Application of Clinical Genetics, 2021

Cardiac Dysfunction in Duchenne Muscular Dystrophy Is Less Frequent in Patients With Mutations in the Dystrophin Dp116 Coding Region Than in Other Regions.

Yamamoto T et al.

Circulation. Genomic and Precision Medicine, 2018

29874176 (PubMed )
Supplement: hcg-11-e001782-s001.pdf

Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center.

Takeshima Y et al.

Journal of Human Genetics, 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."