Varaico: Literature-Extracted Genetic Variants

Gene:DMD
Variant:p.T261insFs
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DMD

NM_004006.3:p.T261insFs

Associated Papers

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

Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan.

Okubo M et al.

Orphanet Journal of Rare Diseases, 2017

28859693 (PubMed )
Supplement: 13023_2017_703_MOESM1_ESM.pdf

A population-based study of dystrophin mutations in Canada.

Mah JK et al.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2011

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

Rapid direct sequence analysis of the dystrophin gene.

Flanigan KM et al.

American Journal of Human Genetics, 2003

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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."