Varaico: Literature-Extracted Genetic Variants

Gene:DMD
Variant:p.D217Splc
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DMD

NM_004006.3:p.D217Splc

Associated Papers

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

Clinical and genetic spectra in patients with dystrophinopathy in Korea: A single-center study.

Yun U et al.

Plos One, 2021

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

DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy.

Guo R et al.

Journal of Human Genetics, 2015

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."