Varaico: Literature-Extracted Genetic Variants

Gene:DMD
Variant:p.Q2972*
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DMD

NM_004006.3:p.Q2972*

Associated Papers

Efficient precise in vivo base editing in adult dystrophic mice.

Xu L et al.

Nature Communications, 2021

34140489 (PubMed )
Supplement: 41467_2021_23996_MOESM1_ESM.pdf

The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre.

Tuffery-Giraud S et al.

Neuromuscular Disorders : Nmd, 2004

Mutation analysis of the dystrophin gene in Southern French DMD or BMD families: from Southern blot to protein truncation test.

Tuffery S et al.

Human Genetics, 1998

Four novel dystrophin point mutations: detection by protein truncation test and transcript analysis in lymphocytes from Duchenne muscular dystrophy patients.

Tuffery S et al.

European Journal of Human Genetics : Ejhg, 1996

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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."