Varaico: Literature-Extracted Genetic Variants

Gene:DMD
Variant:p.Q785*
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DMD

NM_004006.3:p.Q785*

Associated Papers

Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.

Molaei N et al.

Scientific Reports, 2025

41315541 (PubMed )
Supplement: 41598_2025_26836_MOESM1_ESM.xlsx › Table_1

Natural history of patients with nonsense mutation Duchenne muscular dystrophy treated with ataluren in Spain.

Armijo J et al.

Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2025

DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy.

Guo R et al.

Journal of Human Genetics, 2015

One year outcome of boys with Duchenne muscular dystrophy using the Bayley-III scales of infant and toddler development.

Connolly AM et al.

Pediatric Neurology, 2014

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

Strategy for comprehensive molecular testing for Duchenne and Becker muscular dystrophies.

Stockley TL et al.

Genetic Testing, 2006

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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."